Search

The illegal ivory trade remains a prime threat to elephant populations. Identification of ivory is crucial for combating illicit ivory trading. Studies have demonstrated that FTIR spectroscopy is one of the most suitable techniques for identifying ivory and its products. However, this technique could not have been fully utilized due to the lack of a reference IR spectral library/database. In light of this, the present study aimed to develop the FTIR spectral library for Asian elephant ivory. We collected eight Asian elephant ivory (n = 8) samples from our institute repository and recorded the FTIR spectrum. Further, based on the biochemical composition of ivory, we identified various characteristics, functional groups, and their respective wavenumbers. Furthermore, we used the FTIR spectrum of Asian elephant ivory as a reference to identify the fifteen carvings (n = 15) suspected to be of Asian elephant ivory. The results revealed that samples 1 -13 are visibly identical to the FTIR spectrum of Asian elephant ivory; in contrast, samples 14 and 15 do not match the FTIR spectrum of Asian elephant ivory. Hence, it is confirmed that out of fifteen samples, thirteen are likely to be of Asian elephant ivory origin. To confirm this finding, we employed the PLS-DA analysis. The result showed an R Square value of 0.9 for calibration and 0.75 for validation, and the model exhibited 100% accuracy in classifying the original and fake ivory samples. The results confirmed that FTIR combined with chemometrics analysis was useful for identifying ivory and fake materials. To validate the FTIR results, we extracted the DNA from suspected samples 1–15 and amplified elephant-specific D-loop and Sry (sex-determining region on the Y chromosome) genes. Subsequently, the PCR amplicons were examined on a 2.5% agarose gel and observed for samples 1–13, one band at 137 bp (for D-loop) and another at 97 bp (for Sry). These results indicated that samples 1–13 are of elephant origin, whereas samples 14 and 15 are not of elephant origin. To confirm this finding, the PCR amplicons (D-loop) from nine samples (1–9) were sequenced, and % similarity was analyzed. The results showed 96.6 to 100% similarity to the Mammuthus primigenius, Elephas maximus indicus, and Loxodonta africana. The primers (D-loop and Sry) used in this study are elephant-specific and do not distinguish the elephant species. Overall, DNA-based results supported the results from FTIR analysis and confirmed that the suspected samples 1–13 are of elephant origin and 14 and 15 are not of elephant origin. The current study has demonstrated the identification of ivory substitutes through FTIR spectral library for Asian elephant ivory, which is rapid, cost-effective, and has excellent potential for forensic analysis.Article Highlights: The FTIR spectral library was developed for Asian elephant ivory. The suspected elephant carvings were identified using the FTIR spectral library of Asian elephant ivory. The FTIR results were confirmed through PCR amplification of elephant-specific D-loop and Sry genes. [ABSTRACT FROM AUTHOR]

Background: Spontaneous remission of cancer is a rare and poorly understood phenomenon characterized by complete or partial remission of a malignancy in the absence of or with inadequate treatment. The underlying mechanism for such occurrences is poorly understood, however, immune mechanisms seem to play an important role in such cases. In recent years increasingly more data have become available in favor of the clinical benefit of low levels of chimerism in hematologic malignancies. One such instance of naturally occurring low-level chimerism is feto-maternal microchimerism which has been shown to influence cancer progression and, in some instances, to be a protective factor against malignancy. Case report: We report a case of a young female patient with aggressive primary mediastinal large B cell lymphoma refractory to two lines of chemo-immunotherapy achieving sustained complete metabolic remission of tumor while pregnant with twins. Results: A focus on feto-maternal microchimerism during and after pregnancy revealed transient levels of feto-maternal microchimerism in the peripheral blood of the patient as measured by quantifying the Y-chromosome-linked SRY gene. Conclusions: Microchimerism presents significant potential for enhancing our comprehension of disease mechanisms, uncovering novel therapeutic targets, and refining diagnostic and treatment approaches, especially concerning cancer. [ABSTRACT FROM AUTHOR]

Abstract The illegal ivory trade remains a prime threat to elephant populations. Identification of ivory is crucial for combating illicit ivory trading. Studies have demonstrated that FTIR spectroscopy is one of the most suitable techniques for identifying ivory and its products. However, this technique could not have been fully utilized due to the lack of a reference IR spectral library/database. In light of this, the present study aimed to develop the FTIR spectral library for Asian elephant ivory. We collected eight Asian elephant ivory (n = 8) samples from our institute repository and recorded the FTIR spectrum. Further, based on the biochemical composition of ivory, we identified various characteristics, functional groups, and their respective wavenumbers. Furthermore, we used the FTIR spectrum of Asian elephant ivory as a reference to identify the fifteen carvings (n = 15) suspected to be of Asian elephant ivory. The results revealed that samples 1 -13 are visibly identical to the FTIR spectrum of Asian elephant ivory; in contrast, samples 14 and 15 do not match the FTIR spectrum of Asian elephant ivory. Hence, it is confirmed that out of fifteen samples, thirteen are likely to be of Asian elephant ivory origin. To confirm this finding, we employed the PLS-DA analysis. The result showed an R Square value of 0.9 for calibration and 0.75 for validation, and the model exhibited 100% accuracy in classifying the original and fake ivory samples. The results confirmed that FTIR combined with chemometrics analysis was useful for identifying ivory and fake materials. To validate the FTIR results, we extracted the DNA from suspected samples 1–15 and amplified elephant-specific D-loop and Sry (sex-determining region on the Y chromosome) genes. Subsequently, the PCR amplicons were examined on a 2.5% agarose gel and observed for samples 1–13, one band at 137 bp (for D-loop) and another at 97 bp (for Sry). These results indicated that samples 1–13 are of elephant origin, whereas samples 14 and 15 are not of elephant origin. To confirm this finding, the PCR amplicons (D-loop) from nine samples (1–9) were sequenced, and % similarity was analyzed. The results showed 96.6 to 100% similarity to the Mammuthus primigenius, Elephas maximus indicus, and Loxodonta africana. The primers (D-loop and Sry) used in this study are elephant-specific and do not distinguish the elephant species. Overall, DNA-based results supported the results from FTIR analysis and confirmed that the suspected samples 1–13 are of elephant origin and 14 and 15 are not of elephant origin. The current study has demonstrated the identification of ivory substitutes through FTIR spectral library for Asian elephant ivory, which is rapid, cost-effective, and has excellent potential for forensic analysis. Graphical abstract

Abstract Background Sex chromosome abnormalities associated with disorders of sexual development (DSD) are rarely described in cats, mainly due to the lack of chromossome studies that precisely reveal the condition. Genetic approaches are therefore required in order to detect sex chromossomes abnormalities as variations in the number and structure of chromosomes, or the presence of a second cell line as mosaicim or chimerism. Case presentation A male Shorthair cryptorchid cat was presented with clinical signs of anorexia, tenesmus and hyperthermia. Ultrasonography revealed a fluid-filled structure, with approximately 1 cm in diameter, adjacent to the descending colon. Computed tomography evidenced a tubular structure, ventral to the descending colon and caudal to the bladder, which extended cranially, through two branches. Histopathological evaluation confirmed the presence of two atrophic uterine horns and one hypoplastic testicle with epididymis at the end of one of the uterine horns. The end of the other uterine horn was attached to a structure composed by a mass of adipocytes. Cytogenetic analysis revealed a mosaic 37,X/38,XY karyotype. The two cell lines were found in 15% and 85% of the lymphocytes, respectively. Genetic analysis confirmed the presence of SRY and ZFY genes in blood and hair bulbs, and revealed a marked reduction in SRY expression in the testicle. Additionally, this case presented exceptionally rare features, such as a Leydig’ cell tumour and a chronic endometritis in both uterine horns. Conclusions Complete imaging workup, cytogenetic analysis and SRY gene expression should be systematically realized, in order to properly classify disorders of sexual development (DSD) in cats.

Simple Summary: Phan Rang sheep is a term used to collectively refer to the sheep raised in the central Vietnam provinces of Ninh Thuan and Binh Thuan. Given the extreme weather conditions of their habitat, Phan Rang sheep are assumed to be heat-resilient. With climate change's mounting challenges, the sheep have become a focus of government-led breeding and conservation initiatives. However, there is a critical knowledge gap regarding the sheep's genetic information, including their origins, diversity, population structure, and genetics, as well as the morphological basis of their adaptive traits. This gap has hindered the development of breeding programs and genetic resource conservation efforts. In an effort to contribute to filling this knowledge gap, we employed a two-fold approach to investigate Phan Rang sheep's morphometrics and genetic lineages. First, we collected body conformational data to facilitate the quick identification of purebred individuals. Secondly, we collected and analyzed the mitochondrial DNA control region (D-loop) and the Y chromosome SRY and SRYM18 sequences to elucidate the maternal and paternal lineages of the sheep. Of the sheep analyzed for the D-loop, approximately one-third belonged to haplogroup A, while the remainder belonged to haplogroup B. For the paternal lineage, two main Y haplotypes, H5 and H6, were identified. Overall, the findings supported the hypothesis of dual origins for the Phan Rang sheep. The Phan Rang sheep, considered the sole indigenous breed of Vietnam, are primarily concentrated in the two central provinces of Ninh Thuan and Binh Thuan, with Ninh Thuan accounting for more than 90% of the country's sheep population. These provinces are known for their high temperatures and frequent droughts. The long-standing presence of the Phan Rang sheep in these regions suggests their potential resilience to heat stress—a trait of increasing interest in the face of global climate change. Despite the breed's significance, a critical knowledge gap hinders conservation and breeding programs. To address this, our study employed a two-pronged approach. First, we collected body conformational data to aid in breed identification. Second, we analyzed mitochondrial DNA (D-loop) and Y chromosome markers (SRY and SRYM18) to elucidate the maternal and paternal lineages. Among the 68 Phan Rang sheep analyzed for their D-loop, 19 belonged to mitochondrial haplogroup A, while 49 belonged to haplogroup B. The haplogroups can be subdivided into 16 unique haplotypes. All 19 rams surveyed for their paternal lineages belonged to haplotypes H5 and H6. These findings strongly support the hypothesis of dual origins for the Phan Rang sheep. This study presents the first genetic data for the Phan Rang breed, providing crucial insights for future research and conservation efforts. [ABSTRACT FROM AUTHOR]

Background: Sex chromosome abnormalities associated with disorders of sexual development (DSD) are rarely described in cats, mainly due to the lack of chromossome studies that precisely reveal the condition. Genetic approaches are therefore required in order to detect sex chromossomes abnormalities as variations in the number and structure of chromosomes, or the presence of a second cell line as mosaicim or chimerism. Case presentation: A male Shorthair cryptorchid cat was presented with clinical signs of anorexia, tenesmus and hyperthermia. Ultrasonography revealed a fluid-filled structure, with approximately 1 cm in diameter, adjacent to the descending colon. Computed tomography evidenced a tubular structure, ventral to the descending colon and caudal to the bladder, which extended cranially, through two branches. Histopathological evaluation confirmed the presence of two atrophic uterine horns and one hypoplastic testicle with epididymis at the end of one of the uterine horns. The end of the other uterine horn was attached to a structure composed by a mass of adipocytes. Cytogenetic analysis revealed a mosaic 37,X/38,XY karyotype. The two cell lines were found in 15% and 85% of the lymphocytes, respectively. Genetic analysis confirmed the presence of SRY and ZFY genes in blood and hair bulbs, and revealed a marked reduction in SRY expression in the testicle. Additionally, this case presented exceptionally rare features, such as a Leydig' cell tumour and a chronic endometritis in both uterine horns. Conclusions: Complete imaging workup, cytogenetic analysis and SRY gene expression should be systematically realized, in order to properly classify disorders of sexual development (DSD) in cats. [ABSTRACT FROM AUTHOR]

Copyright of Mersin Üniversitesi sağlık Bilimleri Dergisi is the property of Mersin University and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Spontaneous remission of cancer is a rare and poorly understood phenomenon characterized by complete or partial remission of a malignancy in the absence of or with inadequate treatment. The underlying mechanism for such occurrences is poorly understood, however, immune mechanisms seem to play an important role in such cases. In recent years increasingly more data have become available in favor of the clinical benefit of low levels of chimerism in hematologic malignancies. One such instance of naturally occurring low-level chimerism is feto-maternal microchimerism which has been shown to influence cancer progression and, in some instances, to be a protective factor against malignancy. Case report: We report a case of a young female patient with aggressive primary mediastinal large B cell lymphoma refractory to two lines of chemo-immunotherapy achieving sustained complete metabolic remission of tumor while pregnant with twins. Results: A focus on feto-maternal microchimerism during and after pregnancy revealed transient levels of feto-maternal microchimerism in the peripheral blood of the patient as measured by quantifying the Y-chromosome-linked SRY gene. Conclusions: Microchimerism presents significant potential for enhancing our comprehension of disease mechanisms, uncovering novel therapeutic targets, and refining diagnostic and treatment approaches, especially concerning cancer.

This study aimed to determine the kinship and genetic diversity between Limousin and Madrasin cattle based on the sex determining region-Y (SRY) gene. SRY gene is used in the analysis of genetic diversity for sex determination based on the paternal pathway (Y chromosome). The DNA samples used for this study were 10 frozen straw of Limousin cattle and 10 samples of Madrasin cattle. The method used in this research was a descriptive analysis by duplex polymerase chain reaction and analyzing the results of the SRY gene sequencing of limousine cattle and Madrasin cattle. In the present study, we showed that the SRY gene of Madrasin cattle and Limousine cattle could be amplified with SRY F and SRY R primers with a PCR product length of 318 bp. Based on these results, Madura, Limousin, and Madrasin cattle had similarities based on the SRY gene (paternal pathway). [ABSTRACT FROM AUTHOR]

The reproductive efficiency improvements that can be achieved in bovine herds highly depend on the male, as the bulls account for approximately 80% of the gene pool. Likewise, age can impact the sires' reproductive efficiency through its seminal quality, which is strongly influenced by the bull's sexual maturity. The study aimed to assess the bull's age effect on the X and Y chromosomes-bearing spermatozoa ratio in semen. Sixteen Brahman bulls (Bos indicus) were grouped into two age range and their reproductive capacity was assessed. Genomic DNA was extracted from a single collection of semen to quantify by qPCR (quantitative polymerase chain reaction) the PLP and SRY genes, used as sexual chromosome markers, and autosomal GAPDH as the reference gene. The values obtained were compared using the delta Ct (2-Ct) method and validated with the use of a commercial sample of semen sexed for the X chromosome. The SRY gene had a proportion of 43% in bulls of 4-5 years of age and 32% in the group of 9-10 years, while the proportions of the PLP gene were 57% in bulls of 4-5 years and 68% in the 9-10 years group. This deviation from the expected ratio (1:1) in bulls of nine and ten years old with a preponderance of the X chromosome content might suggest a possible influence of age in the sex chromosome proportions in the spermatozoa; however, these results were not statistically significant. [ABSTRACT FROM AUTHOR]

The Phan Rang sheep, considered the sole indigenous breed of Vietnam, are primarily concentrated in the two central provinces of Ninh Thuan and Binh Thuan, with Ninh Thuan accounting for more than 90% of the country’s sheep population. These provinces are known for their high temperatures and frequent droughts. The long-standing presence of the Phan Rang sheep in these regions suggests their potential resilience to heat stress—a trait of increasing interest in the face of global climate change. Despite the breed’s significance, a critical knowledge gap hinders conservation and breeding programs. To address this, our study employed a two-pronged approach. First, we collected body conformational data to aid in breed identification. Second, we analyzed mitochondrial DNA (D-loop) and Y chromosome markers (SRY and SRYM18) to elucidate the maternal and paternal lineages. Among the 68 Phan Rang sheep analyzed for their D-loop, 19 belonged to mitochondrial haplogroup A, while 49 belonged to haplogroup B. The haplogroups can be subdivided into 16 unique haplotypes. All 19 rams surveyed for their paternal lineages belonged to haplotypes H5 and H6. These findings strongly support the hypothesis of dual origins for the Phan Rang sheep. This study presents the first genetic data for the Phan Rang breed, providing crucial insights for future research and conservation efforts.

Y-chromosome-encoded master transcription factor SRY functions in the embryogenesis of therian mammals to initiate male development. Through interactions of its conserved high-mobility group box within a widened DNA minor groove, SRY and related Sox factors induce sharp bends at specific DNA target sites. Here, we present the crystal structure of the SRY high-mobility group domain bound to a DNA site containing consensus element 5'-ATTGTT. The structure contains three complexes in the asymmetric unit; in each complex, SRY forms 10 hydrogen bonds with minor-groove base atoms in 5'-CATTGT/ACAATG-3', shifting the recognition sequence by one base pair (italics). These nucleobase interactions involve conserved residues Arg7, Asn10, and Tyr74 on one side of intercalated Ile13 (the cantilever) and Arg20, Asn32, and Ser36 on the other. Unlike the less-bent NMR structure, DNA bend angles (69-84°) of the distinct box-DNA complexes are similar to those observed in homologous Sox domain-DNA structures. Electrophoretic studies indicate that respective substitutions of Asn32, Ser36, or Tyr74 by Ala exhibit slightly attenuated specific DNA-binding affinity and bend angles (70-73°) relative to WT (79°). By contrast, respective substitutions of Arg7, Asn10, or Arg20 by Ala markedly impaired DNA-binding affinity in association with much smaller DNA bend angles (53-65°). In a rodent cell-based model of the embryonic gonadal ridge, full-length SRY variants bearing these respective Ala substitutions exhibited significantly decreased transcriptional activation of SRY's principal target gene (Sox9). Together, our findings suggest that nucleobase-specific hydrogen bonds by SRY are critical for specific DNA binding, bending, and transcriptional activation., Competing Interests: Conflict of interest The authors declare that they have no conflicts of interest with the contents of this article., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Consanguineous marriages cause rare blended phenotypes in common geographies and the emergence of different homozygous diseases in the same family. In this article, a family in which different rare mechanisms come together as a result of consanguineous marriage is presented. A 2-yearold proband with a blended phenotype with sex development disorder and coenzyme Q10 deficiency has psychomotor retardation, micropenis, undescended testicles, dysmorphic findings, hypotonia, and the gonads have a bilateral testicular appearance and are located in the inguinal canal. In the patient's brother, who previously died due to hydrocephalus, a non-sense homozygous variant c.1051C>T p.(Arg351*) was detected in the 7th exon of the NM_001134830 transcript of the AHI1 gene. The patient's cytogenetic analysis result is: 46,XX,ish,der(X)t(X;Y)(p22.3;p11.2)(SRY+). In the molecular karyotyping analysis performed due to hypotonia, psychomotor retardation and dysmorphic findings; a change of 2.1 Mb in size was detected in the Xp22.33p22.32 region and 3.1 Mb in size in the Yp11.2 region. This change is 46,XX sex reversal 1; it has been associated with SRXX1 (OMIM number:#400045) disease. In the subsequent whole exome analysis, a c.437T>G (Phe146Cys) missense homozygous probable pathogenic variant was detected in the NM_016035 transcript in the 5th exon of the COQ4 gene, which explains other clinical findings. In primary deficiency of coenzyme Q10 (OMIM number: #616276), which is a lipid component of the mitochondrial respiratory chain, symptoms vary; hypotonia, decreased coQ levels in muscle tissue, regression in psychomotor development, seizures, and increased serum lactate levels are observed. It is generally lethal in the first years of life, and in this respect, it is thought that the clinical findings of the proband will contribute to the literature with their milder course. To our knowledge, there is no other case in the literature reporting a sexual development anomaly or primary CoQ10 deficiency. [ABSTRACT FROM AUTHOR]

Sry on the Y-chromosome upregulates Sox9, which in turn upregulates a set of genes such as Fgf9 to initiate testicular differentiation in the XY gonad. In the absence of Sry expression, genes such as Rspo1, Foxl2, and Runx1 support ovarian differentiation in the XX gonad. These two pathways antagonize each other to ensure the development of only one gonadal sex in normal development. In the B6.YTIR mouse, carrying the YTIR-chromosome on the B6 genetic background, Sry is expressed in a comparable manner with that in the B6.XY mouse, yet, only ovaries or ovotestes develop. We asked how testicular and ovarian differentiation pathways interact to determine the gonadal sex in the B6.YTIR mouse. Our results showed that (1) transcript levels of Sox9 were much lower than in B6.XY gonads while those of Rspo1 and Runx1 were as high as B6.XX gonads at 11.5 and 12.5 days postcoitum. (2) FOXL2-positive cells appeared in mosaic with SOX9-positive cells at 12.5 days postcoitum. (3) SOX9-positive cells formed testis cords in the central area while those disappeared to leave only FOXL2-positive cells in the poles or the entire area at 13.5 days postcoitum. (4) No difference was found at transcript levels of all genes between the left and right gonads up to 12.5 days postcoitum, although ovotestes developed much more frequently on the left than the right at 13.5 days postcoitum. These results suggest that inefficient Sox9 upregulation and the absence of Rspo1 repression prevent testicular differentiation in the B6.YTIR gonad., (© The Author(s) 2024. Published by Oxford University Press on behalf of Society for the Study of Reproduction. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)