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Abstract Background The cyclic nucleotide-gated channel (CNGC) gene family plays a significant role in the uptake of both essential and toxic cations, and has a role in enhancing tolerance to various forms of abiotic stresses as well as the modulation of the heavy metal toxicity to plant through the absorption of heavy metals. Results A complete genome-wide identification and functional characterization of the cotton CNGC genes was carried out, in which 55, 28, and 29 CNGC genes were identified in Gossypium hirsutum, G. raimondii, and G. arboreum, respectively. The protein encoded by the CNGC genes exhibited GRAVY value below zero, indicating their hydrophilic property. CNGC genes were unevenly distributed in 19 out of 26 chromosomes, in which the highest density were observed on Ah05, with 8 genes. High gene coverage was observed among the diploid cotton species, with CNGC genes mapped on all A chromosomes and on 11 out of 13 of D chromosomes. The majority of CNGC proteins were localized in the endoplasmic reticulum, nucleus, and plasma membrane. Gene expression analysis revealed the up-regulation of Gh_A01G0520 (CNGC4) and Gh_D13G1974 (CNGC5) across various forms of abiotic stresses. Moreover, down-regulation of Gh_A01G0520 (CNGC4) and Gh_D13G1974 (CNGC5) in CNGC s silenced plants caused the significantly reduced ability to tolerate drought and salt stresses. All CNGCs silenced plants were recorded to have significantly low content of antioxidants but relatively higher content of oxidant, including MDA and H2O2. Furthermore, SPAD, CMS (cell membrane stability), ELWL (excised leaf water loss), SDW (shoot dry matter weight), and RDW (root dry matter weight) were all lower in CNGCs silenced plants compared with the wild type plants. Conclusion Significant reduction in antioxidant content and negative effects of physiological and morphological characters in CNGCs silenced plants has revealed the novel role of CNGC genes in enhancing cell integrity under abiotic stress conditions. These results provide vital information that will expand our understanding of the CNGC gene family in cotton and other plants, thus promoting the integration of these genes in the development of the environmental resilient plants.

A Gram-negative, aerobic, rod-shaped, non-motile, yellow-pigmented bacterium, KMM 9835T, was isolated from the sediment sample obtained from the Amur Bay of the Sea of Japan seashore, Russia. Phylogenetic analyses based on the 16S rRNA gene and whole genome sequences positioned the novel strain KMM 9835T in the genus Mariniflexile as a separate line sharing the highest 16S rRNA gene sequence similarities of 96.6% and 96.2% with Mariniflexile soesokkakense RSSK-9T and Mariniflexile fucanivorans SW5T, respectively, and similarity values of Mariniflexile species. The average nucleotide identity and digital DNA–DNA hybridization values between strain KMM 9835T and M. soesokkakense KCTC 32427T, Mariniflexile gromovii KCTC 12570T, M. fucanivorans DSM 18792T, and M. maritimum M5A1MT were 83.0%, 82.5%, 83.4%, and 78.3% and 30.7%, 29.6%, 29.5%, and 24.4%, respectively. The genomic DNA GC content of strain KMM 9835T was 32.5 mol%. The dominant menaquinone was MK-6, and the major fatty acids were iso-C15:0, iso-C15:1ω10c, and C15:0. The polar lipids of strain KMM 9835T consisted of phosphatidylethanolamine, two unidentified aminolipids, an unidentified phospholipid, and six unidentified lipids. A pan-genome analysis showed that the KMM 9835T genome encoded 753 singletons. The annotated singletons were more often related to transport protein systems (SusC), transcriptional regulators (AraC, LytTR, LacI), and enzymes (glycosylases). The KMM 9835T genome was highly enriched in CAZyme-encoding genes, the proportion of which reached 7.3%. Moreover, the KMM 9835T genome was characterized by a high abundance of CAZyme gene families (GH43, GH28, PL1, PL10, CE8, and CE12), indicating its potential to catabolize pectin. This may represent part of an adaptation strategy facilitating microbial consumption of plant polymeric substrates in aquatic environments near shorelines and freshwater sources. Based on the combination of phylogenetic and phenotypic characterization, the marine sediment strain KMM 9835T (=KCTC 92792T) represents a novel species of the genus Mariniflexile, for which the name Mariniflexile litorale sp. nov. is proposed.

The sclerotia of Wolfiporia hoelen (Fr.) Y.C. Dai & V. Papp is an important traditional Chinese medicine with diverse pharmacological properties. This study utilized a combination of PacBio Long-Read Sequencing, Illumina Short-Read Sequencing, and Hi-C Sequencing to generate a high-quality chromosome-level genome assembly of a W. hoelen strain Minling A5. There were 112 contigs in the genome, with 62.95 Mb in total length and 4.21 Mb in length for the contig N50. The average GC content was 51.89%. Based on Hi-C data, we corrected the CCS data and scaffolded them into 14 pseudo-chromosomes. The genome contained 44.37% repetitive sequences and 12,670 protein-coding genes, 86.53% (10,963) of which could be functionally annotated in at least one of the KOG, GO, Pfam, Swissprot, TrEMBL, NR, and KEGG databases. In addition, 240 transfer RNAs, 97 ribosomal RNAs, and 103 other non-coding RNAs were identified in the W. hoelen genome. A total of 755 pseudogenes were also identified, with an average length of 2665.51 bp. Further, there were 398, 100, 2837, 519, and 2068 genes annotated by CAZymes, TCDB, PHI, P450, and DFVF databases, respectively. One notable attribute of W. hoelen is its capacity to thrive in a substrate of fresh pine sawdust. Through an analysis of the growth on various pure wood sawdust culture media, we found that the growth of W. hoelen and Sparassis latifolia on pine sawdust was similar to that on broad-leaved wood sawdust, while the growth of Pleurotus ostreatus, P. eryngii, and Cyclocybe aegerita was slower than that on broad-leaved wood sawdust. By the functional annotation analysis of orthogroups in these five mushroom-forming fungi, it was determined that 645 orthogroups were specifically common in W. hoelen and S. latifolia. The genes in these specific orthogroups were significantly enriched in 12 pathways, including steroid biosynthesis, biosynthesis of antibiotics, and tyrosine metabolism. The high-quality genome and comparative genome analysis results significantly contribute to advancing our foundational knowledge of W. hoelen biology, while also offering valuable insights for the development of innovative biotechnological approaches aimed at enhancing the efficient and sustainable utilization of Pinus.

The detection of cryptic species in complexes that have undergone recent speciation is often difficult, since many standard nuclear markers have not yet accumulated differences between closely related taxa, and differences in mitochondrial markers can be leveled out due to mitochondrial introgressions. In these cases, the use of derived chromosomal characters such as non-ancestral chromosomal numbers and/or unusual karyotype features may be a solution to the species delimitation problem. However, non-ancestral but similar karyotypes may arise secondarily as a result of homoplastic evolution, and their interpretation as homologies may lead to incorrect taxonomic conclusions. In our study, we show that the combined use of mitochondrial DNA barcodes and karyotypes helps to solve this problem and identifies cryptic species in situations where each of these markers does not work individually. Using this approach, we show that the fauna of Armenia and adjacent Iran includes the following cryptic taxa of the Polyommatus ripartii species complex (haploid chromosome number, n in parentheses): P. ripartii paralcestis (n = 90), P. ripartii kalashiani, subsp. nov (n close to 90), P. emmeli, sp. nov. (n = 77–79), P. keleybaricus, sp. nov. (n = 86), P. demavendi belovi (n = 73–75), P. demavendi antonius, subsp. nov. (n = 71–73), P. admetus anatoliensis (n = 79) and P. eriwanensis (n = 29–34). Polyommatus admetus yeranyani is synonymized with P. admetus anatoliensis.

Large-scale structural variations, such as chromosomal translocations, can have profound effects on fitness and phenotype, but are difficult to identify and characterize. Here, we describe a simple and effective method aimed at identifying translocations using only the dosage of sequence reads mapped on the reference genome. We binned reads on genomic segments sized according to sequencing coverage and identified instances when copy number segregated in populations. For each dosage-polymorphic 1 Mb bin, we tested independence, effectively an apparent linkage disequilibrium (LD), with other variable bins. In nine potato (Solanum tuberosum) dihaploid families translocations affecting pericentromeric regions were common and in two cases were due to genomic misassembly. In two populations, we found evidence for translocation affecting euchromatic arms. In cv. PI 310467, a nonreciprocal translocation between chromosomes (chr.) 7 and 8 resulted in a 5-3 copy number change affecting several Mb at the respective chromosome tips. In cv. "Alca Tarma," the terminal arm of chr. 4 translocated to the tip of chr. 1. Using oligonucleotide-based fluorescent in situ hybridization painting probes (oligo-FISH), we tested and confirmed the predicted arrangement in PI 310467. In 192 natural accessions of Arabidopsis thaliana, dosage haplotypes tended to vary continuously and resulted in higher noise, while apparent LD between pericentromeric regions suggested the effect of repeats. This method, LD-CNV, should be useful in species where translocations are suspected because it tests linkage without the need for genotyping.

The search for new, effective methods for broadening the genetic polymorphism of the original breeding material remains one of important problems of hybrid maize breeding. Globally, breeding of commercial maize varieties and hybrids is carried out using diploid genotypes, whereas tetraploid sources of initial material and wild relatives of maize are poorly involved in the breeding process. The direct heteroploid crosses between diploid and tetraploid genotypes lead to the formation of weakly fertile or completely sterile triploid hybrids, which are cytologically unstable in subsequent generations. Tetraploid maize (2n=40), as well as some wild relatives with tetraploid genome, such as Zea perennis Hitchk. (2n=40) and Tripsacum dactiloides (L.) L. (2n=72), are attractive to breeders as sources for improving economically valuable traits. The attractiveness of resynthesized diploid lines is explained by the fact that unequal crossing over between homologous chromosomes forming polyvalent associations of chromosomes, more chromosomal rearrangements occur in tetraploids than in diploid genotypes, the chromosomes of which form bivalents. Synthetic tetraploid populations of maize and its tetraploid wild relatives have great potential of variability for improving diploid maize. The authors proposed a direct method for the resynthesis of doubled haploid lines using haploid induction and an indirect method for obtaining diploid lines by heteroploid crossing and subsequent segregation of a triploid hybrid in the progeny. The method of resynthesizing the tetraploid maize genome to diploid serves as an ideal model for studying the processes of crossing over in meiosis between multivalent associations of homologous chromosomes; it is promising for obtaining diploid lines with an increased frequency of recombination between the homologous chromosomes of different genomes, combined into a common one, and can serve as a source for obtaining aneuploid series.

The physical basis of phase separation is thought to consist of the same types of bonds that specify conventional macromolecular interactions yet is unsatisfyingly often referred to as ‘fuzzy’. Gaining clarity on the biogenesis of membraneless cellular compartments is one of the most demanding challenges in biology. Here, we focus on the chromosome passenger complex (CPC), that forms a chromatin body that regulates chromosome segregation in mitosis. Within the three regulatory subunits of the CPC implicated in phase separation – a heterotrimer of INCENP, Survivin, and Borealin – we identify the contact regions formed upon droplet formation using hydrogen/deuterium exchange mass spectrometry (HXMS). These contact regions correspond to some of the interfaces seen between individual heterotrimers within the crystal lattice they form. A major contribution comes from specific electrostatic interactions that can be broken and reversed through initial and compensatory mutagenesis, respectively. Our findings reveal structural insight for interactions driving liquid-liquid demixing of the CPC. Moreover, we establish HXMS as an approach to define the structural basis for phase separation.

The genus Papaver classified in the Papaveraceae family, is a valuable, non-alternative medicinal plant which has illustrated a massive variety of pharmacologically important alkaloids. Chromosomal and monoploid genome size diversity of seven populations collected from different districts of Balkh Province in northern parts of Afghanistan were studied. All populations were diploid, six of which (P1-P6) had 22 chromosomes, while P7 had 20 larger chromosomes. The mean chromosome length (CL) of P1-P6 populations was 1.32 μm (0.91-1.74 μm), but that of P7 population was 2.24 μm. The results of flow cytometric analysis showed that the mean monoploid 2Cx DNA of P1-P6 populations was 5.701 pg (5.574-5.901 pg), whereas that of P7 population was 5.795 pg, confirming intraspecific variation. This study is being reported for the first time from the northern part of Afghanistan’s opium cultivation area, and P7 population is also being reported for the first time in terms of chromosome number. Valuable information on Cytogenetics can be used in some research fields, including polygenetic analysis, taxonomic relationships, evolutionary characteristics, and plant breeding.

The first chromosome study of Trigonostigma somphongsi (Meinken,1958) from Thailand. Specimens were collected from Pak Phli District, Nakhornnayok Province, central Thailand. The mitotic chromosomes were directly prepared from kidney tissues of two males and two females. Conventional staining and Ag-NOR banding techniques were applied to stain the chromosomes. The results shown that diploid chromosome number of T. somphongsi was 2n=50, the fundamental numbers (NF) were 92 in both male and female. The types chromosomes consisted of 10 metacentric, 20 submetacentric, 12 acrocentric and 8 telocentric chromosomes. The result also exhibited that the interstitial nucleolar organizer regions (NORs) were clearly observed at the short arm of chromosome pair 2. The karyotype formula could be deduced as: 2n (diploid) 50=10m+20sm+12a+8t.

Several organelles in the cell, such as mitochondria and chloroplasts, are limited by one or several membranes, whereas others, like ribosomes and nucleoli have no membranes. Their shape is decided by their inner atomic coherence. The mineral crystal has no delimiting membranes built by separate atoms. Atomic self-assembly determines its pattern. Remarkable is that the chromosome has no outer membrane limiting its pattern as seen in the light and electronic microscopes. Its pattern is also decided by the inner coherence of the atomic configuration of its DNA, RNA, and proteins. The chromosome appears to occupy an intermediate position between a mineral crystal and a cell organelle when its atomic configuration is considered.

Structural maintenance of chromosomes (SMC) complexes share conserved structures and serve a common role in maintaining chromosome architecture. In the bacterium Escherichia coli, the SMC complex MukBEF is necessary for rapid growth and the accurate segregation and positioning of the chromosome, although the specific molecular mechanisms involved are still unknown. Here, we used a number of in vivo assays to reveal how MukBEF controls chromosome conformation and how the MatP/matS system prevents MukBEF activity. Our results indicate that the loading of MukBEF occurs preferentially on newly replicated DNA, at multiple loci on the chromosome where it can promote long-range contacts in cis even though MukBEF can promote long-range contacts in the absence of replication. Using Hi-C and ChIP-seq analyses in strains with rearranged chromosomes, the prevention of MukBEF activity increases with the number of matS sites and this effect likely results from the unloading of MukBEF by MatP. Altogether, our results reveal how MukBEF operates to control chromosome folding and segregation in E. coli.

Histone variants, which generally differ in few amino acid residues, can replace core histones (H1, H2A, H2B, and H3) to confer specific structural and functional features to regulate cellular functions. In addition to their role in DNA packaging, histones modulate key processes such as gene expression regulation and chromosome segregation, which are frequently dysregulated in cancer cells. During the years, histones variants have gained significant attention as gatekeepers of chromosome stability, raising interest in understanding how structural and functional alterations can contribute to tumourigenesis. Beside the well-established role of the histone H3 variant CENP-A in centromere specification and maintenance, a growing body of literature has described mutations, aberrant expression patterns and post-translational modifications of a variety of histone variants in several cancers, also coining the term “oncohistones.” At the molecular level, mechanistic studies have been dissecting the biological mechanisms behind histones and missegregation events, with the potential to uncover novel clinically-relevant targets. In this review, we focus on the current understanding and highlight knowledge gaps of the contribution of histone variants to aneuploidy, and we have compiled a database (HistoPloidyDB) of histone gene alterations linked to aneuploidy in cancers of the The Cancer Genome Atlas project. [ABSTRACT FROM AUTHOR]

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The taxonomically challenging genus Calendula L. (Asteraceae) includes lots of medicinal species characterized by their high morphological and karyological variability. For the first time, a repeatome analysis of a valuable medicinal plant Calendula officinalis L. was carried out using high-throughput genome DNA sequencing and RepeatExplorer/TAREAN pipelines. The FISH-based visualization of the 45S rDNA, 5S rDNA, and satellite DNAs of C. officinalis was performed on the chromosomes of C. officinalis, C. stellata Cav., C. tripterocarpa Rupr., and C. arvensis L. Three satellite DNAs were demonstrated to be new molecular chromosome markers to study the karyotype structure. Karyograms of the studied species were constructed, their ploidy status was specified, and their relationships were clarified. Our results showed that the C. officinalis karyotype differed from the karyotypes of the other three species, indicating its separate position in the Calendula phylogeny. However, the presence of common repeats revealed in the genomes of all the studied species could be related to their common origin. Our findings demonstrated that C. stellata contributed its genome to allotetraploid C. tripterocarpa, and C. arvensis is an allohexaploid hybrid between C. stellata and C. tripterocarpa. At the same time, further karyotype studies of various Calendula species are required to clarify the pathways of chromosomal reorganization that occurred during speciation. [ABSTRACT FROM AUTHOR]

The Orchidaceae is one of the largest families of angiosperms, comprising more than 26,000 species in ca. 800 genera. Orchids species have relatively stable genomes with only 38 or 40 chromosomes, but individual phenotypes are extremely diverse. Since interspecific/intergeneric hybridization and polyploid production by artificial crossing are relatively easy, many cultivars have been bred to realize high commercial value in this group of plants. Such hybrids envisage genomic flexibility and intergenomic orientation. In order to elucidate the mechanisms of genomic flexibility, we have studied the genomes and epigenome marks of native Asian orchids, namely Vanda, Phalaenopsis, Cymbidium, and Dendrobium, using modern molecular cytogenetic techniques that facilitate physical visualization. Whereas, conventional meiotic analysis remains an important resource to understand genomic affinities based on chromosome pairing during meiosis, but the orchid taxa per se are not so well amenable for cytological observation, thus limiting the availability of information for genome analysis. Therefore, we developed a multi-color GISH method that can visualize genomes and reveal genome-donor species and hybridization history in artificial hybrids. We also focused our studies on epigenetic changes in the genome to elucidate the factors responsible thereof. The findings presented here provide information on physical visualization of genome(s), chromosomal distribution patterns of chromatin modifications with special emphasis on histone methylation, acetylation, phosphorylation, and centromere-specific histone marks in orchids using immuno-FISH. The novel findings emanating from this study are: (i) the dual modified histone H3S10phK14ac, which targets the peri-centromeric position of chromosomes may serve as a novel cytological marker to centromere, (ii) there is differential response to chromosomal DNA methylation among species and ploidy variants as discerned from 5mC distribution; larger chromosome size and elevated ploidy level exhibit enhanced methylation, (iii) in artificial intergenomic hybrids, genomes with large chromosomes and chromosomes located in the periphery of the nucleus tend to have more 5mC epigenetic changes, (iv) when identified in GISH experiments, the larger chromosome genome was found to exhibit more similarity to hybrid phenotypes. It is underpinned that to understand the flexibility of orchid genomes, it is important to grasp the entire genome through visualization techniques rather than fragmentary information at the molecular or cellular level. [ABSTRACT FROM AUTHOR]

Background: Cytomolecular genetic laboratory techniques have developed from conventional G-banding karyotyping to whole genome sequencing. Although resolution has greatly increased, various cytogenetic techniques have their advantages and limitations in detecting genomic variations. Methods: We compared the chromosomal abnormalities detected by G-banding karyotyping and SNP-based microarray testing in 62 patients from July 2020 to December 2022. We analyzed their difference according to chromosomal abnormalities, including numerical and structural and others. Results: Of the 62 patients, 28 patients showed chromosomal aberration detected in one or more of the two test methods. Aneuploidy was detected in both methods, while gain and loss less than 3 Mb were only detectable by the microarray. G-banding karyotyping is fundamental to detect structural chromosome rearrangement such as inversions, ring chromosomes, and translocations, but additional breakpoint or unknown origin materials information obtained from microarray. Loss of heterozygosity was only detectable in microarray, and mosaicism had limitations in both G-banding karyotyping and microarray. Conclusions: Various disease cause genomic structural variants, it is very important to detect this. We showed discordance between G-banding karyotyping and SNP based microarray in clinical laboratory. It can be helpful to clinical physicians to decide which diagnostic tool to use. [ABSTRACT FROM AUTHOR]

The concentrations of As, Cd, Cr, Pb and Fe in water, sediment and Oreochromis niloticus tissues and the chromosomal aberrations, genetic differentiation and genomic template stability (GTS) of O. niloticus in 2 reservoirs near iron ore mine and one reference reservoir were investigated. Genetic differentiation and %GTS were evaluated by inter simple sequence repeat analysis. The As, Cd and Cr concentrations in fish from 2 mine reservoirs exceeded the standards. Seven types of chromosomal aberrations were found in fish from the iron ore mine: single chromatid gap, iso chromatid gap, centromere gap, dicentric chromosome, fragmentation, deletion, and ring chromosome. The average percentages of aberrant chromosomes in the cells of O. niloticus from mine reservoirs 1, 2 and the reference reservoir were 23.6, 16.8 and 2.2, respectively. Genetic differentiation and subsequent dendrogram analysis separated O. niloticus into 3 clusters, corresponding to the 2 mine reservoirs and the reference reservoir. The %GTS ranges of O. niloticus were 68.75–83.75, 71.88–85.19 and 83.58–97.01, respectively. Metals accumulations in O. niloticus could induce the occurrence of chromosomal aberrations and genetic differentiation. [ABSTRACT FROM AUTHOR]

The karyotype, which is the number and shape of chromosomes, is a fundamental characteristic of all eukaryotes. Karyotypic changes play an important role in many aspects of evolutionary processes, including speciation. In organisms with monocentric chromosomes, it was previously thought that chromosome number changes were mainly caused by centric fusions and fissions, whereas chromosome shape changes, that is, changes in arm numbers, were mainly due to pericentric inversions. However, recent genomic and cytogenetic studies have revealed examples of alternative cases, such as tandem fusions and centromere repositioning, found in the karyotypic changes within and between species. Here, we employed comparative genomic approaches to investigate whether centromere repositioning occurred during karyotype evolution in medaka fishes. In the medaka family (Adrianichthyidae), the three phylogenetic groups differed substantially in their karyotypes. The Oryzias latipes species group has larger numbers of chromosome arms than the other groups, with most chromosomes being metacentric. The O. javanicus species group has similar numbers of chromosomes to the O. latipes species group, but smaller arm numbers, with most chromosomes being acrocentric. The O. celebensis species group has fewer chromosomes than the other two groups and several large metacentric chromosomes that were likely formed by chromosomal fusions. By comparing the genome assemblies of O. latipes, O. javanicus, and O. celebensis, we found that repositioning of centromere‐associated repeats might be more common than simple pericentric inversion. Our results demonstrated that centromere repositioning may play a more important role in karyotype evolution than previously appreciated. [ABSTRACT FROM AUTHOR]

Background: With the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication. The study aimed to explore the molecular etiology of fetal TE and provide more information for the clinical screening and genetic counseling of TE by Chromosomal Microarray Analysis (CMA). Methods: This retrospectively study included 131 fetuses with TE identified by ultrasonography. Conventional karyotyping and SNP array analysis were performed for all the subjects. They were divided into isolated TE group (n = 55) and complex group (n = 76) according to structural anomalies. Results: Among the total of 131 fetuses, karyotype analysis found 12(9.2%) abnormal results, while SNP array found 27 (20.6%) cases. Trisomy 18 was detected most frequently among abnormal karyotypes. The detection rate of SNP array was significantly higher than that of traditional chromosome karyotype analysis (P < 0.05). SNP array detected 15 (11.5%) cases of submicroscopic abnormalities that karyotype analysis did not find. The most common CNV was the 22q11.2 microdeletion. For both analyses, the overall detection rates were significantly higher in the complex TE group than in the isolated TE group (karyotype: P < 0.05; SNP array: P < 0.05). The incremental yield of chromosomal abnormalities in fetuses with unilateral TE (22.0%) was higher than in fetuses with bilateral TE (19.8%), but this difference was not statistically significant (P > 0.05). Abnormal chromosomes were most frequently detected in fetuses with TE plus cardiovascular system abnormalities. Conclusion: Fetal TE is related to chromosomal microdeletion or microduplication. Prenatal diagnosis is recommended for fetuses with TE, and CMA testing is preferred. CMA can improve the detection rate of chromosomal abnormalities associated with fetal TE, especially in pregnancies with complex TE. [ABSTRACT FROM AUTHOR]

Forensic DNA typing has been widely accepted in the courts all over the world. This is because DNA profiling is a very powerful tool to identify individuals on the basis of their unique genetic makeup. DNA evidence is capable of not only identifying the presence of specific biospecimens in a crime scene, but it is also used to exonerate suspects who are innocent of a crime. Technological advancements in DNA profiling, including the development of validated kits and statistical methods have made this tool to be more precise in forensic investigations. Therefore, validated combined DNA index system (CODIS) short tandem repeats (STRs) kits which require very small amount of DNA, coupled with real-time polymerase chain reaction (PCR) and the statistical strengths are used routinely to identify human remains, establish paternity or to match suspected crime scene biospecimens. The road to modern DNA profiling has been long, and it has taken scientists decades of work and fine tuning to develop highly accurate testing and analyses that are used today. This review will discuss the various DNA polymorphisms and their utility in human identity testing. [ABSTRACT FROM AUTHOR]

Crocodilians have maintained very similar karyotype structures and diploid chromosome numbers for around 100 million years, with only minor variations in collinearity. Why this karyotype structure has largely stayed unaltered for so long is unclear. In this study, we analyzed the karyotypes of six species belonging to the genera Crocodylus and Osteolaemus (Crocodylidae, true crocodiles), among which the Congolian endemic O. osborni was included and investigated. We utilized various techniques (differential staining, fluorescence in situ hybridization with repetitive DNA and rDNA probes, whole chromosome painting, and comparative genomic hybridization) to better understand how crocodile chromosomes evolved. We studied representatives of three of the four main diploid chromosome numbers found in crocodiles (2n = 30/32/38). Our data provided new information about the species studied, including the identification of four major chromosomal rearrangements that occurred during the karyotype diversification process in crocodiles. These changes led to the current diploid chromosome numbers of 2n = 30 (fusion) and 2n = 38 (fissions), derived from the ancestral state of 2n = 32. The conserved cytogenetic tendency in crocodilians, where extant species keep near-ancestral state, contrasts with the more dynamic karyotype evolution seen in other major reptile groups. [ABSTRACT FROM AUTHOR]

Caligula japonica, a forestry pest known for its destructive impact on various trees, has recently shown promise as a potential natural medical mesh biomaterial in the medical industry. However, the lack of genomic resources has hindered in-depth studies on the karyotype evolution and functional genomics of this species. In this study, we conducted high-throughput sequencing of the C. japonica genome, yielding the first chromosome-level assembly. We successfully assembled a high-quality genome of 584,537,256 bp with Contig N50 of 12 Mb and 31 chromosomes. About 342 Mb repeat sequences were identified, accounting for 59.16% of C. japonica genome. Genome annotation by de novo gene prediction and homologous gene search yields 20,887 protein-coding genes. Furthermore, a phylogenetic analysis of gene families linked to detoxification and chemosensory revealed a pronounced expansion in the P450, ABC, and GR gene families within C. japonica and Bombyx mori. The genome obtained in this research will provide data basis support for research on resource utilization of C. japonica and to progress comparative genomic analyses and evolutionary adaptability in Lepidoptera. [ABSTRACT FROM AUTHOR]

The raison d'être of meiosis is shuffling of genetic information via Mendelian segregation and, within individual chromosomes, by DNA crossing-over. These outcomes are enabled by a complex cellular program in which interactions between homologous chromosomes play a central role. We first provide a background regarding the basic principles of this program. We then summarize the current understanding of the DNA events of recombination and of three processes that involve whole chromosomes: homolog pairing, crossover interference, and chiasma maturation. All of these processes are implemented by direct physical interaction of recombination complexes with underlying chromosome structures. Finally, we present convergent lines of evidence that the meiotic program may have evolved by coupling of this interaction to late-stage mitotic chromosome morphogenesis. [ABSTRACT FROM AUTHOR]

To understand the clinical risks associated with the transfer of embryos classified as a mosaic using preimplantation genetic testing for aneuploidy. Analysis of data collected between 2017 and 2023. Multicenter. Patients of infertility treatment. Comparison of pregnancies resulting from embryos classified as euploid or mosaic using the 20%–80% interval in chromosomal intermediate copy numbers to define a mosaic result. Rates of spontaneous abortion, birth weight, length of gestation, incidence of birth defects, and chromosomal status during gestation. Implanted euploid embryos had a significantly lower risk of spontaneous abortion compared with mosaic embryos (8.9% [n = 8,672; 95% confidence interval {CI95} 8.3, 9.5] vs. 22.2% [n = 914; CI95 19.6, 25.0]). Embryos with mosaicism affecting whole chromosomes (not segmental) had the highest risk of spontaneous abortion (27.6% [n = 395; CI95 23.2, 32.3]). Infants born from euploid, mosaic, and whole chromosome mosaic embryos had average birth weights and lengths of gestation that were not statistically different (3,118 g and 267 days [n = 488; CI95 3,067, 3,169, and 266, 268], 3052 g and 265 days [n = 488; CI95 2,993, 3,112, and 264,267], 3,159 g and 268 days [n = 194; CI95 3,070, 3,249, and 266,270], respectively). Out of 488 infants from mosaic embryo transfers (ETs), one had overt gross abnormalities as defined by the Centers for Disease Control and Prevention. Most prenatal tests performed on pregnancies from mosaic ETs had normal results, and only three pregnancies produced prenatal test results reflecting the mosaicism detected at the embryonic stage (3 out of 250, 1.2%; CI95 0.25, 3.5). Although embryos classified as mosaic experience higher rates of miscarriage than euploid embryos (with a particularly high frequency shortly after implantation), infants born of mosaic ETs are similar to infants of euploid ETs. Prenatal testing indicates that mosaicism resolves during most pregnancies, although this process is not perfectly efficient. In a small percentage of cases, the mosaicism persists through gestation. These findings can serve as risk-benefit considerations for mosaic ETs in the fertility clinic. [ABSTRACT FROM AUTHOR]

Diabetic retinopathy (DR) is renowned as a leading cause of visual loss in working-age populations with its etiopathology influenced by the disturbance of biochemical metabolic pathways and genetic factors, including gene polymorphism. Metabolic pathways considered to have an impact on the development of the disease, as well as genes and polymorphisms that can affect the gene expression, modify the quantity and quality of the encoded product (protein), and significantly alter the metabolic pathway and its control, and thus cause changes in the functioning of metabolic pathways. In this article, the screening of chromosomes and the most important genes involved in the etiology of diabetic retinopathy is presented. The common databases with manuscripts published from January 2000 to June 2023 have been taken into consideration and chosen. This article indicates the role of specific genes in the development of diabetic retinopathy, as well as polymorphic changes within the indicated genes that may have an impact on exacerbating the symptoms of the disease. The collected data will allow for a broader look at the disease and help to select candidate genes that can become markers of the disease. [ABSTRACT FROM AUTHOR]

We report a case of a 20-year-old man who presented with splenomegaly, hyperleukocytosis, anemia, and thrombocytopenia. A diagnosis of acute myeloid leukemia (AML) with LRRFIP1::FGFR1 rearrangement with complex karyotype was determined. Chromosome analysis showed a male karyotype: 46,XY,i(1)(q10),t(2;8)(q37;p11.2),der(5)t(1;5) (p22;q13)[17]46,XY [3]. Fluorescence in situ hybridization (FISH) analysis using the Cytocell FGFR1 break apart/amplification probe detected FGFR1 rearrangement with t(2:8) in 126/200 cells analyzed. Other FISH probes including 1p36/ 1q25 probes, del(5q) deletion probe, TLX3 break apart probe, and PDGFRB break apart probe were also utilized to confirm the other karyotypic abnormalities. Next-generation sequencing (NGS) SureSelectXT Custom DNA Target Somatic Detection detected RUNX1 gene mutation. NGS Archer FusionPlex (RNA) confirmed the LRRFIP1::FGFR1 rearrangement. This is the second reported case of AML with LRRFIP1::FGFR1 rearrangement and the first with a complex karyotype. [ABSTRACT FROM AUTHOR]

Thinopyrum intermedium (2n=6x=42, StStJrJrJvsJvs) is resistant or tolerant to biotic and abiotic stresses, making it suitable for developing perennial crops and forage. Through five cycles of selection, we developed 24 perennial wheatgrass lines, designated 19HSC-Q and 20HSC-Z, by crossing wheat-Th. intermedium partial amphiploids with Th. intermedium. The cold resistance, morphological performance, chromosome composition, and yield components of these perennial lines were investigated from 2019 to 2022. Six lines of 19HSC-Q had higher 1,000-kernel weight, grains per spike, and tiller number than Th. intermedium, as well as surviving -30°C in winter. Lines 19HSC-Q14, 19HSCQ18, and 19HSC-Q20 had the best performances for grain number per spike and 1,000-kernel weight. The 20HSC-Z lines, 20HSC-Z1, 20HSC-Z2, and 20HSC-Z3, were able to survive in the cold winter in Harbin and had been grown for two years. Sequential multicolor GISH analysis revealed that the Jvs subgenome of Th. intermedium were divided into two karyotypes, three pairs of type-I Jvs chromosomes and four pairs of type-II Jvs chromosomes. Both Th. intermedium and the 24 advanced perennial wheatgrass lines had similar chromosome compositions, but the translocations among subgenome chromosomes were detected in some lines with prominent agronomic traits, such as 19HSC-Q11, 19HSC-Q14, 19HSC-Q18, 19HSC-Q20, and the three 20HSC-Z lines. The chromosome aberrations were distinguished into two types: the large fragment translocation with St-Jr, Jvs-St, Jr-IIJvs, and Jvs-Jr and the small fragment introgression of Jr-St, St-IJvs, and Jvs-Jr. These chromosomal variations can be used to further analyze the relationship between the subgenomes and phenotypes of Th. intermedium. The results of this study provide valuable materials for the next selection cycle of cold-resistant perennial wheatgrass. [ABSTRACT FROM AUTHOR]

The genome size variation is an important attribute in evolutionary and species characterization. Musa L. is regarded as one of the taxonomically complicated genera within the order Zingiberales, with more than 75 species from wild seeded to seedless cultivars that may be diploid, triploid or tetraploid. The knowledge of total nuclear DNA content in terms of genome size and ploidy level in wild species of Musa is absolutely important in evolutionary and genomic studies. Methods: In this paper, chromosome spreading was performed via protoplast isolation and a fast air-dry dropping method and flow cytometry were used with Raphanus sativus L. (Brassicaceae) as a standard for ploidy and genome size estimation. Results: The results showed that genome size (2C) varied amongst Musa species, based on the ratio of G1 peak positions. The lowest genome size (2C) was found in M. balbisiana var. andamanica (1.051 ± 0.060 pg) and the highest genome size (2C) was recorded for Musa ABB.cv. Meitei-hei (1.812 ± 0.108 pg) for the section Eumusa. Among the species belonging to the section Rhodochlamys, M. rosae had the lowest 2C content of 1.194 ± 0.033 pg whereas the highest nuclear DNA content (2C) was observed in M. velutina (1.488 ± 0.203 pg). Cytogenetic analysis revealed that the chromosome number of 14 wild Musa species was 2n = 22, while 1 species—Ensete glaucum—showed a chromosome number of 2n = 18 (diploid), and for 3 species, the chromosome number was 2n = 33 (triploids). An association study based on the Pearson correlation coefficient showed 2C nuclear DNA content was significant and positively correlated with ploidy level (R = 0.9) and chromosome number (R = 0.84). Conclusions: The present study provides reliable information on the genome size and ploidy level of wild Musa species from the Indian region through flow cytometric analysis, which could be further utilized in taxonomic and crop improvement programs. For the first time, the nuclear DNA content of eight wild diploid and three triploid Indian species were estimated and reported. Genome size could be an effective indicator in identification of species and evolutionary studies in Musa with varying ploidy levels and morphological similarities. [ABSTRACT FROM AUTHOR]

Background: Chromosomal aberrations are as common as 13.8% in the infertile population. The incidence of pericentric inversion of chromosome 9 is approximately 1–3%. However, although these inversions do not alternate phenotype, there have been conflicting data about their effect as they were correlated with infertility, recurrent pregnancy loss, and deceased children, with no clear evidence of the inversions being the causative factor for these events. Case presentation: We report a case report of an Arab family with many members with inv(9)(p22q13). Our proband male aged 35 years at time of presentation with primary infertility. Some members, such as a brother aged 34 years, who had this inversion suffered from recurrent pregnancy loss while other members of similar reproductive age did not. Conclusions: inv(9)(p22q13) might be a hereditary anomaly that might be a risk factor for recurrent pregnancy loss in its members. [ABSTRACT FROM AUTHOR]

Background: The cyclic nucleotide-gated channel (CNGC) gene family plays a significant role in the uptake of both essential and toxic cations, and has a role in enhancing tolerance to various forms of abiotic stresses as well as the modulation of the heavy metal toxicity to plant through the absorption of heavy metals. Results: A complete genome-wide identification and functional characterization of the cotton CNGC genes was carried out, in which 55, 28, and 29 CNGC genes were identified in Gossypium hirsutum, G. raimondii, and G. arboreum, respectively. The protein encoded by the CNGC genes exhibited GRAVY value below zero, indicating their hydrophilic property. CNGC genes were unevenly distributed in 19 out of 26 chromosomes, in which the highest density were observed on Ah05, with 8 genes. High gene coverage was observed among the diploid cotton species, with CNGC genes mapped on all A chromosomes and on 11 out of 13 of D chromosomes. The majority of CNGC proteins were localized in the endoplasmic reticulum, nucleus, and plasma membrane. Gene expression analysis revealed the up-regulation of Gh_A01G0520 (CNGC4) and Gh_D13G1974 (CNGC5) across various forms of abiotic stresses. Moreover, down-regulation of Gh_A01G0520 (CNGC4) and Gh_D13G1974 (CNGC5) in CNGCs silenced plants caused the significantly reduced ability to tolerate drought and salt stresses. All CNGCs silenced plants were recorded to have significantly low content of antioxidants but relatively higher content of oxidant, including MDA and H2O2. Furthermore, SPAD, CMS (cell membrane stability), ELWL (excised leaf water loss), SDW (shoot dry matter weight), and RDW (root dry matter weight) were all lower in CNGCs silenced plants compared with the wild type plants. Conclusion: Significant reduction in antioxidant content and negative effects of physiological and morphological characters in CNGCs silenced plants has revealed the novel role of CNGC genes in enhancing cell integrity under abiotic stress conditions. These results provide vital information that will expand our understanding of the CNGC gene family in cotton and other plants, thus promoting the integration of these genes in the development of the environmental resilient plants. [ABSTRACT FROM AUTHOR]

Introduction The endosperm (3n) is the food source for the embryo, which has received two polar nuclei from the maternal parent 2n and one sperm cell from the paternal parent 1n. Traditionally, triploid plants are created by crossing between tetraploid plants and diploid plants. To carry out this method, it is necessary to create tetraploid lines, and it is possible to double the chromosomes of diploid species by using substances that inhibit the formation of the division spindle. The advantage of endosperm culture over the traditional method is that the production of triploid plants in endosperm culture is done in a single step, and the time required to generate a triploid plant is less than in the traditional method. Increasing the level of ploidy of the nucleus can affect the plant's physiological and biochemical processes as well as altering the rate of photosynthesis, respiration, activity of genes, enzymes, and expression of isoenzymes compared with diploid types. They will have a new phenotype and can surpass the range of traits of their diploid ancestors such as increasing biomass and changing the quality and concentration of plant active ingredients, increasing resistance to drought stress, and resistance to pests. Therefore, the chance of their selection will increase. Materials and Methods Immature seeds were collected in late May, about 35 to 45 days after pollination, and mature seeds were harvested after fully ripening approximately in late July, and disinfection using a stereomicroscope with 60 times magnification under a laminar hood. The endosperm tissue was separated from the seed coat and embryo. In this study, mature and immature endosperm tissues of the mooseer plant were cultured onto hormonal compounds for callus induction in dark conditions for three months. In further experiments, the effects of sucrose were investigated at two levels of 30 and 50 gl-1 and the combination of BAP and NAA treatments on mooseer production. The flow cytometry method and chromosome counting were used to determine the ploidy levels of regenerated plants. Results In this study, the treatment of 1 mg L-1 of NAA and 1 mg L-1 of BAP indicated the highest percentage of callus formation in both mature and immature tissues of mooseer endosperm. Seedlings produced in the treatment of 0.5 mg L-1 of NAA and 3 mg L-1 of BAP in culture medium with 50 g of sucrose caused the production of bulblet with greater length and diameter. The present study identified the cytogenetic properties, chromosome counts, and stomatal sizes of triploid plants regenerated from both mature and immature endosperm tissue of mooseer, using flow cytometry. A total of 12 triploid seedlings were obtained from mature tissue, while 8 seedlings were obtained from immature tissue. Conclusion Traditionally, triploids are produced by hybridization between induced superior tetraploids and diploids, but endosperm culture is a one-step protocol. In this study, according to the sexual and asexual propagation (propagation through daughter bulbs) of mooseer, the modification and production of the triploid plants in mooseer allow the propagation of this plant through daughter bulbs. Generally, triploid plants were successfully produced through the endosperm culture method. [ABSTRACT FROM AUTHOR]

The six species of the genus Bubalus include the lowland and mountain anoa, Asian wild buffalo, tamaraw, swamp buffalo, and riverine buffalo. Few studies were conducted on the matrilineal phylogeny and genetic diversity of Bubalus species. In addition, there is controversy regarding the identity of the two domesticated water buffaloes in the Philippines - the introduced riverine and the native swamp buffalo. Thus, this study aimed to determine the genetic distance and phylogenetic relationship of Bubalus species using the mitochondrial cytochrome b (cytb) variation and to re-evaluate the taxonomic species designation of Bubalus bubalis. A total of 499 Philippine cytb sequences from this study (n = 179), as well as other Asian countries (n = 319) and Syncerus caffer (n = 1), from NCBI were included in the analysis. The highest interspecies genetic distance (d) (0.040) was between the tamaraw and lowland anoa, whereas the lowest genetic distance (0.020) was between mountain and lowland anoa. Moreover, the phylogenetic tree indicated 52 haplotypes that delineated three groups, including lowland anoa, mountain anoa, and tamaraw with two domesticated buffaloes. The latter group further separated into three species - tamaraw, riverine, and swamp buffaloes. The analyses of genetic distance, phylogeny, and median-joining network structure based on cytb confirmed that the swamp buffaloes from Occidental Mindoro and South Cotabato, Philippines belong to maternal lineage B. Karyotype analysis consistently confirms that riverine buffaloes possess 50 chromosomes, whereas swamp buffaloes have 48 chromosomes, aligning with previous findings. Moreover, the swamp and riverine buffaloes appear to be distinct species, with the swamp buffalo having a closer affinity to the tamaraw than to the riverine buffalo. We, therefore, propose to revive the species assignment of the Bubalus kerabau Fitzinger, 1860 as a distinct species to the swamp buffalo. Furthermore, a common maternal ancestry was confirmed between the tamaraw and two domesticated buffaloes - the swamp and riverine. Research findings provided valuable information on understanding and monitoring the matrilineal genetic diversity of the genus Bubalus toward conservation and management. [ABSTRACT FROM AUTHOR]

Tetraploidy is a hallmark of cancer cells, and tetraploidy‐selective cell growth suppression is a potential strategy for targeted cancer therapy. However, how tetraploid cells differ from normal diploids in their sensitivity to anti‐proliferative treatments remains largely unknown. In this study, we found that tetraploid cells are significantly more susceptible to inhibitors of a mitotic kinesin (CENP‐E) than are diploids. Treatment with a CENP‐E inhibitor preferentially diminished the tetraploid cell population in a diploid–tetraploid co‐culture at optimum conditions. Live imaging revealed that a tetraploidy‐linked increase in unsolvable chromosome misalignment caused substantially longer mitotic delay in tetraploids than in diploids upon moderate CENP‐E inhibition. This time gap of mitotic arrest resulted in cohesion fatigue and subsequent cell death, specifically in tetraploids, leading to tetraploidy‐selective cell growth suppression. In contrast, the microtubule‐stabilizing compound paclitaxel caused tetraploidy‐selective suppression through the aggravation of spindle multipolarization. We also found that treatment with a CENP‐E inhibitor had superior generality to paclitaxel in its tetraploidy selectivity across a broader spectrum of cell lines. Our results highlight the unique properties of CENP‐E inhibitors in tetraploidy‐selective suppression and their potential use in the development of tetraploidy‐targeting interventions in cancer.

ABSTRACT: Objectives: Emergence of multidrug-resistant (MDR) Salmonella enterica serovar Indiana has raised global concern. Mobile genetic elements (MGEs) play vital roles in accelerating the dissemination of resistance genes in bacteria communities. The study aims to improve our understanding of the underlying resistance mechanisms and characterize the MGEs in a MDR S. Indiana isolate. Methods: Here, we report the characteristics of a MDR pathogenic S. Indiana isolate. The antimicrobial susceptibility pattern of S. Indiana QT6365 was determined. The genomic structure of the chromosome and the plasmid, serotype, and multi-locus sequence type were analysed by whole genome sequencing. The circular form derived from IS26-flanked transposon was confirmed by reverse polymerase chain reaction and sequencing. Results: S. Indiana QT6365 exhibited resistance to all tested antimicrobials except for aztreonam, amikacin, polymyxin, and tigecycline, was defined as MDR, and belonged to ST17. S. Indiana QT6365 was closely related with food resource S. Indiana C629 with similar resistance gene profiles. Multiple resistance genes are mainly carried by a novel transposon Tn7540 located on the chromosome and an IncHI2/HI2A/N plasmid. Sequence analysis and the formed circular intermediate suggested Tn7540 might be generated through homologous recombination by IS26-bounded translocatable units (IS26-fosA-IS26-intI1-dfrA12-aadA2-sul1-ISCR1-blaNDM-9-IS26). Conclusions: To the best of our knowledge, this is the first report of the novel chromosomal transposon possessing blaNDM-9 and fosA3 in S. Indiana isolated from human specimen, which might facilitate the dissemination of resistance genes and should arouse serious awareness.

Abstract Half of the myelodysplastic syndromes (MDS) have normal karyotype by conventional banding analysis. The percentage of true normal karyotype cases can be reduced by 20–30% with the complementary application of genomic microarrays. We here present a multicenter collaborative study of 163 MDS cases with a normal karyotype (≥10 metaphases) at diagnosis. All cases were analyzed with the ThermoFisher® microarray (either SNP 6.0 or CytoScan HD) for the identification of both copy number alteration(CNA) and regions of homozygosity (ROH). Our series supports that 25 Mb cut‐off as having the most prognostic impact, even after adjustment by IPSS‐R. This study highlights the importance of microarrays in MDS patients, to detect CNAs and especially to detect acquired ROH which has demonstrated a high prognostic impact.

Lobocheilos rhabdoura is a fish of the genus Lobocheilos in the family Cyprinidae. It is popular as an ornamental fish in Thailand and is important to fisheries and the economy. Chromosomes and chromosome markers of this species were studied by conventional staining and NOR-banding techniques. Ten male and ten female specimens were collected from the Meklong Basin, Kanchanaburi Province. The chromosomes were directly prepared from kidney tissues. The results showed that diploid chromosome was 2n = 50 and the fundamental number (NF) was 90 in all specimens. The structure karyotype consisted of 10 metacentric, 18 submetacentric, 12 acrocentric and 10 telocentric chromosomes; 10m + 18sm + 12a + 10t in both sexes without morphologically differentiated sex chromosomes. NOR positive markers were observed in regions adjacent to telomere of long arm of the largest submetacentric chromosome pair. This study provides basic knowledge of the karyotype structure of this species and this basic knowledge that can be applied for breeding of ornamental fish in the future.

To evaluate the proportion of chromosomal abnormalities in recurrent pregnancy loss (RPL) assisted by array comparative genomic hybridization (aCGH) bright out with higher detection rate, more accuracy, and less sample failure as compared with conventional cytogenetic analysis. In this study, product of conception samples with abnormal ultrasonogram (USG) findings of the fetus and clinical history of RPL were first processed for karyotyping and fluorescence in situ hybridization (FISH) analysis. Normal results given by karyotype and FISH samples with major anomalies detected by ultrasound with RPL were divided into six groups and aCGH was performed to detect the gain or loss and copy number variations (CNVs) of a particular gene present in chromosomal segments. Among a total of 300 products of conception samples, 100 abnormal samples were identified either by karyotype (n = 70) or by FISH (n = 30). From the remaining 200 samples, 5 showed the presence of maternal cell contamination excluded. aCGH analysis revealed (n = 195) that 74 (38%) samples with CNVs and 2 samples with variants of unknown clinical significance were clinically associated with the clinical findings and 121(62%) samples showed no change in CNVs. The most frequent CNVs were loss of chromosome regions at 2q33.1, 7q11.21, 15q11.1, 16p11.2, Xp22.33, and Yp11.32. CNVs at arr[GRCh37]7p22.3,p21.2(830852-15124702)×1,7q34q36.3(141464180-158909738)×3, 14.2 Mbp deletion of 7p22.3p21.2 (SUN1 gene) and 17.4 Mbp duplication of 7q34q36.3 (KCNH2, CNTNAP2, and SHH genes) were found in one sample, and CNVs at arr[GRCh37]8p22.2q22.3(86326349-105509986)×1 and 2.48 Mbp deletion of 8p22.2q22.3 (GRHL1 gene) were found in another sample.

Recent studies in zebrafish have revealed key features of meiotic chromosome dynamics, including clustering of telomeres in the bouquet configuration, biogenesis of chromosome axis structures, and the assembly and disassembly of the synaptonemal complex that aligns homologs end-to-end. The telomere bouquet stage is especially pronounced in zebrafish meiosis and sub-telomeric regions play key roles in mediating pairing and homologous recombination. In this review, we discuss the temporal progression of these events in meiosis prophase I and highlight the roles of proteins associated with meiotic chromosome architecture in homologous recombination. Finally, we discuss the interplay between meiotic mutants and gonadal sex differentiation and future research directions to study meiosis in living cells, including cell culture.