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Increased content of monounsaturated fatty acids with low melting points in cattle milk and meat known to strongly affect their taste and nutritional value. Steroyl-CoA-desaturase (SCD) is a key enzyme in the biosynthesis of monounsaturated fatty acids. The gene encoding SCD in cattle is located on chromosome 26 and consists of 6 exons and 5 introns and is expressed in the cells of cow udder, adipose, muscles and other tissues. To date, several SNPs in cattle SCD gene have been found. For SNP rs41255693 (g.10329T > C), a correlation was shown between the content of monounsaturated fatty acids in cattle milk/meat and milk productivity. This article describes the development of a real-time PCR assay for genotyping SNP rs41255693 in cattle SCD gene with allele-specific TaqMan probes. The use of this assay allows to significantly reduce the time needed for cattle genotyping compared to the commonly used PCR-RFLP method.

Psoriasis is a multigene and multifactorial skin disease with heterogeneous genetic inheritance. Mental disorders participate in the development of psoriasis as predisposing factors; a correlation of dermatological diseases with pathological anxiety and stress was shown. Meanwhile, there are no studies describing molecular mechanisms of the linkages between psycho-emotional disorders and skin diseases. The aim of this study is to find the associations between SNP in genes COMT (rs4680), DBH (rs141116007), CCKAR (rs1800857) and CCKBR (rs1805002), and psoriasis. Patients were selected according to the 10th revision of International Classification of Diseases (L-40). The sample size was 88 patients. The size of the control sample (population control) was 365 people. Genotyping was performed using PCR-RFLP and real-time PCR. Statistical analysis was performed using WinPepi software. Identification of complex genotypes was performed by the Monte Carlo method using APSampler 3.6.1 algorithm. Among the studied genes, only GA genotype of COMT gene is significantly associated with psoriasis [χ2 = 19.163 (p = 1.3E−5), F (p) = 1.2E−5, OR 3.47 (CI 99% = 1.61–7.91)]. At the moment, the functional significance of this phenomenon is difficult to explain.

Allele frequencies of three substitutions in the CCK (rs42891945 and rs42891946) and CCKBR (rs42670352) genes were identified in three Russian cattle breeds: Holstein (dairy), Bestuzhev (dual-purpose), and Kalmyk (beef). The most promising for further associative studies is the rs42670352 substitution in the CCKBR gene.

Background Migraine is a multifactorial socially significant disease affecting the peripheral and central nervous system. The diagnosis of “migraine” is still the only clinical, and additional methods of inspection are only required to avoid secondary headaches if certain “signs of danger”. Accordingly, the search for biomarkers of migraine, confirming the diagnosis, rather than refuting others, is the leading vector in this scientific field. Aim In this paper we have analyzed the literature data on the genetic markers associated with migraine. Methods List of genes was compiled using Pathway Studio 10® software and abstract database ResNet12 ® made by Elsevier. Addition search (last time on 15 March 2016) was performed by using PubMed or TargetInsights. Information about 185 polymorphic loci in 98 genes associated with migraine was extracted and described. Results The genes associated with migraine could be classified into 8 major groups: homeostasis of blood vessels - 26.5%, metabolism of neurotransmitters - 11.2%, transport and reception of neurotransmitters - 24.5%, neurogenesis - 5.1%, inflammation - 8.2%, sex hormones - 5.1%, ion channels and membrane potential - 11.2%, other - 8.2%. Conclusion These findings parallel the range of mechanisms implicated in migraine pathogenesis.

Panic disorder is a common, socially important human neurological disease. It is known that this disease has a strong genetic basis. Many laboratories investigate candidate genes involved in the control of pathological anxiety. This review summarizes the results of these studies and testify that the development of a panic disorder is associated with the polymorphism of the genes of key neurotransmitter systems of the brain (serotonin, dopamine, cholecystokinin), as well as their metabolizing enzymes. Based on the available data, a complex approach is suggested to enable the identification a genotype that provides predisposition to panic disorder.

Tumor-specific expression downregulation may be indicative of a gene’s involvement in tumor suppression. For instance, SEMA3B mRNA levels are decreased in many cell lines of small-cell and non-small cell lung cancer, and SEMA3B was shown to suppress the growth of the NSCLC cell line NCI-H1299 and tumor formation in immunodeficient mice. In this work, SEMA3B expression levels were determined in epithelial tumors of different localizations. In cell lines of renal, breast, and ovarian cancer, SEMA3B mRNA levels were frequently (4/11, 36%) decreased as much as 10–250-fold according to semiquantitative RT-PCR assay. SEMA3B expression levels were also determined in primary tumor extracts of kidney, lung, breast, ovarian, and colorectal cancer. In clear cell renal cell carcinoma, SEMA3B expression was decreased 5–1000-fold in 25 of 51 extracts (49%) compared to 5/51 (10%) extracts with increased mRNA levels; the result was highly significant: P < 0.0001 by Fisher’s exact test. SEMA3B was frequently downregulated in ovarian (5/16, 31% vs. 2/16, 12%) and colorectal cancer (6/11, 54% vs. 2/11, 18%). These results suggest that SEMA3B is involved in the suppression of kidney, ovarian, and colon tumor growth.

RHOA is a small GTPase involved in morphogenesis, cell adhesion, and cell cycle control. RHOA (3p21.31) is a potential oncogene, causing cell malignant transformation. A study was made of the mechanisms activating RHOA transcription in several epithelial tumors. Semiquantitative RT-PCR revealed elevated transcription of RHOA in tumors (45 cases of breast cancer, renal cell carcinoma, and epithelial ovarian carcinoma; p < 10−4). For the first time transcriptional activation of RHOA in tumors was reliably associated with its amplification (p = 10−7). Digestion with four methyl-sensitive restriction enzymes (HpaII, HhaI, AciI, and Bsh1236I) and subsequent PCR revealed a change in methylation of the RHOA promoter region in 23 out of 45 tumors, hypomethylation being two times more frequent than hypermethylation. Demethylation of the RHOA promoter region was associated with a two-to tenfold increase in the transcription level of the gene. Thus, two mechanisms—amplification and demethylation of the promoter region—were shown to change the level of RHOA transcription in epithelial tumors.

The 32-bp deletion ( CCR5del32 mutation) in the CCR5 (chemokine (C-C motif) receptor 5) gene, encoding CCR5 chemokine receptor, is one of the factors determining natural resistance to human immunode- ficiency virus (HIV-1) infection. In the present study, the samples of Russians ( n = 102), Tuvinians ( n = 50), and HIV-infected individuals ( n = 107) were examined for the presence of CCR5del32 mutation in the CCR5 gene. The CCR5del32 allele frequency in Russians and Tuvinians constituted 7.84 and 2%, respectively. Among HIV-1 infected individuals, two groups, of macrophage-tropic HIV-1 strain- and T-cell-tropic HIV-1 strain- infected were distinguished. The CCR5del32 allele frequency in the first group (6.45%) was lower than in the second one (8.73%). Statistical treatment of the HIV-1 infected individuals typing data showed that the differ- ence in the CCR5del32 allele frequencies between the groups of sexually (macrophage-tropic) and parenterally (T-cell-tropic) infected individuals observed was within the limit of random deviation.

Imprinted genes play important roles in the mammalian development. In the parthenogenetic embryos (PE), there is only expression of maternally expressed genes. Therefore, PEs are appropriate experimental models to study genomic imprinting controlling mechanisms. The maternally expressed H19 and paternally expressed Igf2 are reciprocally imprinted genes in normal embryos. Here, we studied effect of transforming growth factor alpha (TGFα) treatment in vitro (10 ng/ml at the morula stage) on the expression of Igf2/H19 locus in mice PE (9.5 days of gestation, 25 somites) and their placentas (PP). Using RT-PCR, we showed that TGFα reactivated maternally imprinted Igf2 gene in parthenogenetic embryos and placentas. In spite of similar Tgfα expression in the preimplantation stages, its expression in the 9.5-day parthenogenetic embryos is significantly less than in normal embryos (NE). In our experiments, it was shown that reactivation of Igf2 gene occurred independently of H19 gene. In vitro TGFα treatment of mouse PE reactivated paternally expressed Igf2 gene in the PE and PP. In the PE and PP, both Igf2 and H19 were expressed. It seems that TGFα can play an important role as modulator of the Igf2/H19 locus.

The exon–intron structures of the human, rat and mouse ABLIM2 gene were determined in silico. The experimental verification resulted in the revealing of two mRNA isoforms of the ABLIM2 gene. The isoforms a and b contained 20 exons and 18 exons, respectively. The highest expression of both isoforms was observed in rat brain and eye and in mouse embryos. The 5V -UTR region of the ABLIM2 gene was 127 bp in rat and mouse, but in human, it was 65 bp. The site of polyadenylation was shown to be present at a distance of 682 bp from the stop-codon in human and rat and 684 bp in mouse. The in silico analysis of the gene 5V was performed. The high density of brain and CNS specific transcription factors’ binding sites in the promoter region was shown for all three organisms. The comparison of the amino acid sequences of the human ABLIM2 and ABLIM1 proteins showed that the number and arrangement of domains (four LIM-domains in the Nend region and the C-end VHP-domain) were similar. The structure of the ABLIM2 proteins was similar in all three organisms. On the basis of our data, it was assumed that the ABLIM2 protein was necessary for the normal functioning of neurons. D 2005 Elsevier B.V. All rights reserved.

Using nucleotide sequences from jumping and linking Not I libraries of human chromosome 3, 94 Not I-STS markers for 72 individual Not I clones were developed. The positions of the Not I-STS markers and their order on the chromosome were determined by a combination of RH-mapping (our data), contig mapping, cytogenetic mapping, and in silico mapping. Comparison of Not I-STS DNAs with human genome sequences revealed two gaps in the regions 3p21.33 (marker NL1-256) and 3p21.31 (NL3-005), and a segmental duplica- tion. Identical DNA fragments were found in the regions 12q and 3p22-21.33 (marker NL3-007). In the 3q28- q29 region (marker NLM-084), a fragment was detected whose identical copies were also present on chromo- somes 1, 2, 15, and 19. For 69 Not I-STSs, significant homologies to nucleotide sequences of 70 genes and 2 cDNAs were detected (with homologies in Not I-STS 5'- and 3'-terminal sequences being taken into account). An association between Not I-STSs and genes is confirmed by a strong correlation between the density distri- butions of genes and Not I-STS markers on the map of human chromosome 3. Our results indicate that the Not I map may be regarded as a gene map of human chromosome 3. Thus, Not I-STSs are applicable as gene markers.

Sequence tagged sites generated for 60 NotI clones (NotI-STSs) from human chromosome 3-specific NotI-jumping and NotI-linking libraries were physically located using PCR screening of a radiation hybrid (RH) GeneBridge4 panel. The NotI map of chromosome 3 was generated using these RH-mapping data and those obtained earlier by FISH and sequencing of the corresponding NotI clones. The sequences of the NotI clones showed significant homologies with known genes and/or ESTs for 58 NotI-STSs (97%). These 58 NotI clones displayed 91–100% identity to 54 genes and 23 cDNA/EST clones. One known and two hypothetical protein-coding genes were localized for the first time and nine cDNA clones (unknown genes) were also carefully mapped only in this work. Three newly mapped genes are histone gene H1X (NR1-BK20C) and genes for hypothetical proteins THC1032178 and THC1024604 (NL1-243).

Homozygous deletions or loss of heterozygosity (LOH) at human chromosome band 3p12 are consistent features of lung and other malignancies, suggesting the presence of a tumor suppressor gene(s) (TSG) at this location. Only one gene has been cloned thus far from the overlapping region deleted in lung and breast cancer cell lines U2020, NCI H2198, and HCC38. It is DUTTI (Deleted in U Twenty Twenty), also known as ROBO1, FLJ21882, and SAX3, according to HUGO. DUTTI, the human ortholog of the fly gene ROBO, has homology with NCAM proteins. Extensive analyses of DUTTI in lung cancer have not revealed any mutations, suggesting that another gene(s) at this location could be of importance in lung cancer initiation and progression. Here, we report the discovery of a new, small, homozygous deletion in the small cell lung cancer (SCLC) cell line GLC20, nested in the overlapping, critical region. The deletion was delineated using several polymorphic markers and three overlapping PI phage clones. Fiber-FISH experiments revealed the deletion was approximately 130 kb. Comparative genomic sequence analysis uncovered short sequence elements highly conserved among mammalian genomes and the chicken genome. The discovery of two EST clusters within the deleted region led to the isolation of two noncoding RNA (ncRNA) genes. These were subsequently found differentially expressed in various tumors when compared to their normal tissues. The ncRNA and other highly conserved sequence elements in the deleted region may represent miRNA targets of importance in cancer initiation or progression. Published 2006 Wiley-Liss, Inc.(dagger).

Background: It was previously shown that the MTHFR gene polymorphism correlated with an increased risk of migraine, particularly migraine with aura. The substitution of cytosine for thymine at the position 677 of the MTHFR gene leads to formation of the thermolabile form of the protein and development of hyperhomocysteinemia, which increases the probability of migraine. The purpose of this study was to determine whether the replacement of C677T in the gene MTHFR influenced any particular symptoms of the disease. Methods: We have analyzed clinical and electrophysiological characteristics of 83 patients with migraine (migraine with aura (MA), 19 patients, and migraine without aura (MO), 64 patients, according to the ICHD-II (2003)) taking into account their genotypes of C677T variant of MTHFR. Results: We have shown that MA was significantly more prevalent among the T-allele carriers (37.2%), as compared to the СС genotype patients (0%), р < 0.0001. Patients with TT genotype were not only more likely to have accompanying symptoms (significant differences were found only for photophobia), but also more sensitive to migraine attack triggers. In RP-VEP test results we observed a trend that the T-allele carriers were presented with the decreased N75/P100 amplitudes and a positive habituation index, as compared to the СС genotype patients. Conclusions: Thus, according to our data, the MTHFR genotypes are associated with several clinical and electrophysiological characteristics of migraine.