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https://read.qxmd.com/read/30780121/forensic-characterization-of-brazilian-regional-populations-through-massive-parallel-sequencing-of-124-snps-included-in-hid-ion-ampliseq-identity-panel
#1
Eduardo Avila, Aline Brugnera Felkl, Pietra Graebin, Cláudia Paiva Nunes, Clarice Sampaio Alho
Use of Massive Parallel Sequencing (MPS) techniques has been investigated by forensic community aiming introduction of such methods in routine forensic casework analyses. Interesting features presented by MPS include high-throughput, ability to simultaneous genotyping of significant number of samples and forensic markers, workflow automation, among others. Emergence of single nucleotide polymorphism (SNP) as forensic relevant markers was facilitated in this process, since concurrent typing of larger marker sets is necessary for obtaining same levels of individual discrimination provided by other marker categories...
February 13, 2019: Forensic Science International. Genetics
https://read.qxmd.com/read/30779420/the-mouse-as-a-model-of-fundamental-concepts-related-to-turner-syndrome
#2
REVIEW
Arthur P Arnold
Although XO mice do not show many of the overt phenotypic features of Turner syndrome (TS; 45,X or XO), mice and humans share different classes of genes on the X chromosome that are more or less likely to cause TS phenotypes. Based on the evolutionary history of the sex chromosomes, and the pattern of dosage balancing among sex chromosomal and autosomal genes in functional gene networks, it is possible to prioritize types of X genes for study as potential causes of features of TS. For example, X-Y gene pairs are among the most interesting because of the convergent effects of X and Y genes that both are likely to prevent the effects of TS in XX and XY individuals...
February 19, 2019: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://read.qxmd.com/read/30779080/microrna-374b-accelerates-the-development-of-lung-cancer-through-downregulating-pten-expression-via-activating-pi3k-akt-pathway
#3
J Li, Z Zhou, F-C Xu, J Li, D Zeng, X-Q Cao, Y Han
OBJECTIVE: To elucidate whether microRNA-374b could participate in the development of lung cancer (LC) through downregulating PTEN (gene of phosphate and tensin homolog deleted on chromosome ten) expression via activating PI3K/Akt pathway. PATIENTS AND METHODS: Expression levels of microRNA-374b and PTEN in LC tissues and adjacent normal tissues were detected by quantitative Real Time-Polymerase Chain Reaction (qRT-PCR). Moreover, the expression level of microRNA-374b in LC cell lines was detected as well...
February 2019: European Review for Medical and Pharmacological Sciences
https://read.qxmd.com/read/30778658/analysis-of-23-y-str-loci-in-chinese-jieyang-han-population
#4
Tianshan Guan, Xuheng Song, Cheng Xiao, Huilin Sun, Xiaoying Yang, Chao Liu, Ling Chen
Genetic polymorphisms of 23 Y-chromosomal short tandem repeats (Y-STR) were investigated by PowerPlex® Y23 System in 328 unrelated male participants from Jieyang, Guangdong Province of China. A total of 293 haplotypes were obtained, and the haplotype diversity (HD) and discrimination capacity (DC) were 0.9991 and 0.8933, respectively. By comparing Jieyang population with nine other populations, Jieyang Han showed close genetic relationships with southern China-related Han populations. In conclusion, our study increased the Y-chromosome haplotype reference database and could provide useful information for forensic investigation and population genetics...
February 18, 2019: International Journal of Legal Medicine
https://read.qxmd.com/read/30777014/subcongenic-analysis-of-a-quantitative-trait-locus-affecting-body-weight-and-glucose-metabolism-in-zinc-transporter-7-znt7-knockout-mice
#5
L Huang, S Tepaamorndech, C P Kirschke, Y Cai, J Zhao, Xiaohan Cao, Andrew Rao
BACKGROUND: A genome-wide mapping study using male F2 zinc transporter 7-knockout mice (znt7-KO) and their wild type littermates in a mixed 129P1/ReJ (129P1) and C57BL/6J (B6) background identified a quantitative trait locus (QTL) on chromosome 7, which had a synergistic effect on body weight gain and fat deposit with the znt7-null mutation. RESULTS: The genetic segment for body weight on mouse chromosome 7 was investigated by newly created subcongenic znt7-KO mouse strains carrying different lengths of genomic segments of chromosome 7 from the 129P1 donor strain in the B6 background...
February 18, 2019: BMC Genetics
https://read.qxmd.com/read/30776773/developmental-validation-of-a-novel-six-dye-typing-system-with-47-a-indels-and-2-y-indels
#6
Ling Chen, Weian Du, Weibin Wu, Anlu Yu, Xiyong Pan, Peipei Feng, Chunlei Feng, Chen Li, Lingdan Xu, Changhui Liu, Chao Liu
In this study, a multiplex amplification system including 47 autosomal InDels, 2 Y-chromosome InDels, and the sex-determining marker (Amelogenin) was developed with six fluorescent dyes labeling. These InDels were selected from the previous study based on a series of criteria (0.3 < MAF < 0.5, HET > 0.4, etc). The system was designated the AGCU InDel 50 kit and was validated in a series of studies, including a degradation study; tests for sensitivity, species specificity, reproducibility, stability, applicability to case samples, balance of peak height, and PCR conditions; and a population study...
February 12, 2019: Forensic Science International. Genetics
https://read.qxmd.com/read/30768358/rcc2-a-regulator-of-the-rala-signaling-pathway-is-identified-as-a-novel-therapeutic-target-in-cisplatin-resistant-ovarian-cancer
#7
Shipeng Gong, Yongning Chen, Fanliang Meng, Yadi Zhang, Huan Wu, Chanyuan Li, Guangping Zhang
Currently, cisplatin (DDP) is the first-line chemotherapeutic agent used for treatment of ovarian cancer, but gradually acquired drug resistance minimizes its therapeutic outcomes. We aimed to identify crucial genes associated with DDP resistance in ovarian cancer and uncover potential mechanisms. Two sets of gene expression data were downloaded from Gene Expression Omnibus, and bioinformatics analysis was conducted. In our study, the differentially expressed genes between DDP-sensitive and DDP-resistant ovarian cancer were screened in GSE15709 and GSE51373 database, and chromosome condensation 2 regulator (RCC2) and nucleoporin 160 were identified as 2 genes that significantly up-regulated in DDP-resistant ovarian cancer cell lines compared with DDP-sensitive cell lines...
February 15, 2019: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://read.qxmd.com/read/30767891/a-y-chromosome-shredding-gene-drive-for-controlling-pest-vertebrate-populations
#8
Thomas Aa Prowse, Fatwa Adikusuma, Phillip Cassey, Paul Thomas, Joshua V Ross
Self-replicating gene drives that modify sex ratios or infer a fitness cost could be used to control populations of invasive alien species. The targeted deletion of Y sex chromosomes using CRISPR technology offers a new approach for sex bias that could be incorporated within gene-drive designs. We introduce a novel gene-drive strategy termed Y-CHromosome deletion using Orthogonal Programmable Endonucleases (Y-CHOPE), incorporating a programmable endonuclease that 'shreds' the Y chromosome, thereby converting XY males into fertile XO females...
February 15, 2019: ELife
https://read.qxmd.com/read/30766616/pathway-based-classification-of-genetic-diseases
#9
Ivan Y Iourov, Svetlana G Vorsanova, Yuri B Yurov
Background: In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is "gene-centric" and "factor-centric"; a disease may be, thereby, designated as monogenic, oligogenic or polygenic/multifactorial. Chromosomal diseases/syndromes and abnormalities are generally considered apart from these designations due to distinctly different formation mechanisms and simultaneous encompassing from several to several hundreds of co-localized genes...
2019: Molecular Cytogenetics
https://read.qxmd.com/read/30765715/genomic-portrait-of-guangdong-liannan-yao-population-based-on-15-autosomal-strs-and-19-y-strs
#10
Yaoqi Liao, Ling Chen, Runze Huang, Weibin Wu, Dayu Liu, Huilin Sun
Here we studied the genetic polymorphism and evolutionary differentiation of the Guangdong Liannan Yao population based on 15 autosomal STR loci and 19 Y chromosomal STR loci. The blood card DNA of 302 unrelated individuals from the Yao Autonomous County of Liannan was directly amplified using an Expressmarker 16 + 19Y kit and genotyped using a 3500XL Genetic Analyzer. For the autosomal STR loci, the CPD value was over 0.999 999 999 999, while the CPE value was over 0.9999. The population comparison revealed a closer relationship between the Liannan Yao population and the She ethnic population than other reported Chinese populations...
February 14, 2019: Scientific Reports
https://read.qxmd.com/read/30764567/-at-the-beginning-of-the-end-and-in-the-middle-of-the-beginning-structure-and-maintenance-of-telomeric-dna-repeats-and-interstitial-telomeric-sequences
#11
REVIEW
Anna Y Aksenova, Sergei M Mirkin
Tandem DNA repeats derived from the ancestral (TTAGGG)n run were first detected at chromosome ends of the majority of living organisms, hence the name telomeric DNA repeats. Subsequently, it has become clear that telomeric motifs are also present within chromosomes, and they were suitably called interstitial telomeric sequences (ITSs). It is well known that telomeric DNA repeats play a key role in chromosome stability, preventing end-to-end fusions and precluding the recurrent DNA loss during replication. Recent data suggest that ITSs are also important genomic elements as they confer its karyotype plasticity...
February 5, 2019: Genes
https://read.qxmd.com/read/30760267/genomic-evidence-of-y-chromosome-microchimerism-in-the-endometrium-during-endometriosis-and-in-cases-of-infertility
#12
Muzaffer A Bhat, Jai B Sharma, Kallol K Roy, Jayasree Sengupta, Debabrata Ghosh
BACKGROUND: Previous studies, which were primarily based on the fluorescent in-situ hybridisation (FISH) technique, revealed conflicting evidence regarding male foetal microchimerism in endometriosis. FISH is a relatively less sensitive technique, as it is performed on a small portion of the sample. Additionally, the probes used in the previous studies specifically detected centromeric and telomeric regions of Y chromosome, which are gene-sparse heterochromatised regions. In the present study, a panel of molecular biology tools such as qPCR, expression microarray, RNA-seq and qRT-PCR were employed to examine the Y chromosome microchimerism in the endometrium using secretory phase samples from fertile and infertile patients with severe (stage IV) ovarian endometriosis (OE) and without endometriosis...
February 13, 2019: Reproductive Biology and Endocrinology: RB&E
https://read.qxmd.com/read/30759861/rescue-of-sly-expression-is-not-sufficient-to-rescue-spermiogenic-phenotype-of-mice-with-deletions-of-y-chromosome-long-arm
#13
Jonathan M Riel, Yasuhiro Yamauchi, Victor A Ruthig, Qushay U Malinta, Mélina Blanco, Charlotte Moretti, Julie Cocquet, Monika A Ward
Mice with deletions of the Y-specific (non-PAR) region of the mouse Y chromosome long arm (NPYq) have sperm defects and fertility problems that increase proportionally to deletion size. Mice with abrogated function of NPYq-encoded gene Sly (sh367 Sly-KD) display a phenotype similar to that of NPYq deletion mutants but less severe. The milder phenotype can be due to insufficient Sly knockdown, involvement of another NPYq gene, or both. To address this question and to further elucidate the role of Sly in the infertile phenotype of mice with NPYq deletions, we developed an anti-SLY antibody specifically recognizing SLY1 and SLY2 protein isoforms and used it to characterize SLY expression in NPYq- and Sly -deficient mice...
February 12, 2019: Genes
https://read.qxmd.com/read/30753444/gonadoblastoma-y-locus-genes-expressed-in-germ-cells-of-individuals-with-dysgenetic-gonads-and-a-y-chromosome-in-their-karyotypes-include-ddx3y-and-tspy
#14
P H Vogt, B Besikoglu, M Bettendorf, P Frank-Herrmann, J Zimmer, U Bender, S Knauer-Fischer, D Choukair, P Sinn, Y-F C Lau, P H Heidemann, T Strowitzki
STUDY QUESTION: Which Y genes mapped to the 'Gonadoblastoma Y (GBY)' locus on human Y chromosome are expressed in germ cells of individuals with some Differences of Sexual Development (DSD) and a Y chromosome in their karyotype (DSD-XY groups)? SUMMARY ANSWER: The GBY candidate genes DDX3Y and TSPY are expressed in the germ cells of DSD-XY patients from distinct etiologies: patients with mixed gonadal dysgenesis (MGD) and sex chromosome mosaics (45,X0/46,XY; 46,XX/46,XY); patients with complete androgen insensitivity (CAIS), patients with complete gonadal dysgenesis (CGD; e...
February 12, 2019: Human Reproduction
https://read.qxmd.com/read/30746732/a-rare-case-in-literature-isochromosome-xq-in-klinefelter-syndrome
#15
Levent Simsek, Ayse Gul Zamani, Hakan Hakkı Taskapu, Mahmut Selman Yildirim
BACKGROUND: Klinefelter syndrome(KS), affecting 1 in 500-1,000 newborn males, is the most common sex chromosome aneuploidy among males with primary hypogonadism. Isochromosome Xq on the other hand is a rare variant of Klinefelter syndrome, accounting approximately 0.3% of all KS and associated with normal height and androgenisation compared to classical KS. Here, we present a case of isochromosome Xq variant of KS with similar clinical and cytogenetic findings with the few cases reported before...
February 11, 2019: Andrologia
https://read.qxmd.com/read/30746385/biological-validation-of-self-reported-unprotected-sex-and-comparison-of-underreporting-over-two-different-recall-periods-among-female-sex-workers-in-benin
#16
Katia Giguère, Luc Béhanzin, Fernand A Guédou, François A Leblond, Ella Goma-Matsétsé, Djimon M Zannou, Dissou Affolabi, René K Kêkê, Flore Gangbo, Moussa Bachabi, Michel Alary
Background: Self-reported unprotected sex validity is questionable and is thought to decline with longer recall periods. We used biomarkers of semen to validate self-reported unprotected sex and to compare underreporting of unprotected sex between 2 recall periods among female sex workers (FSW). Methods: At baseline of an early antiretroviral therapy and pre-exposure prophylaxis demonstration study conducted among FSW in Cotonou, Benin, unprotected sex was assessed with retrospective questionnaires, and with vaginal detection of prostate-specific antigen (PSA) and Y-chromosomal deoxyribonucleic acid (Yc-DNA)...
February 2019: Open Forum Infectious Diseases
https://read.qxmd.com/read/30744037/the-nuclear-lamina-as-an-organizer-of-chromosome-architecture
#17
REVIEW
Yuri Y Shevelyov, Sergey V Ulianov
The nuclear lamina (NL) is a meshwork of lamins and lamin-associated proteins adjoining the inner side of the nuclear envelope. In early embryonic cells, the NL mainly suppresses background transcription, whereas, in differentiated cell types, its disruption affects gene expression more severely. Normally, the NL serves as a backbone for multiple chromatin anchoring sites, thus shaping the spatial organization of chromosomes in the interphase nucleus. However, upon cell senescence, aging, or in some types of terminally differentiated cells and lamin-associated diseases, the loss of NL-chromatin tethering causes drastic alterations in chromosome architecture...
February 8, 2019: Cells
https://read.qxmd.com/read/30738921/sex-specific-stress-tolerance-proteolysis-and-lifespan-in-the-invertebrate-tigriopus-californicus
#18
Helen B Foley, Patrick Y Sun, Rocio Ramirez, Brandon K So, Yaamini R Venkataraman, Emily N Nixon, Kelvin J A Davies, Suzanne Edmands
Because stress tolerance and longevity are mechanistically and phenotypically linked, the sex with higher acute stress tolerance might be expected to also live longer. On the other hand, the association between stress tolerance and lifespan may be complicated by tradeoffs between acute tolerance and long-term survival. Here we use the copepod Tigriopus californicus to test for sex differences in stress resistance, proteolytic activity and longevity. Unlike many model organisms, this species does not have sex chromosomes...
February 7, 2019: Experimental Gerontology
https://read.qxmd.com/read/30737602/demand-for-larger-y-str-reference-databases-in-ethnic-melting-pot-countries-argentina-as-a-test-case
#19
Mariela Caputo, A Sala, D Corach
The Y chromosome behaves as a single locus. Its genetic information is useful in forensic casework, deficiency kinship testing, and population genetics studies. Continuous increases of loci number within commercial kits forced modification of worldwide reference databases. In Pan American countries, like Argentina, diverse parental ethnic groups contributed to the extant admixed urban populations. We report 509 additional haplotypes of 23 Y-STRs from donors inhabiting urban areas of six Argentinean provinces: Buenos Aires, Santiago del Estero, Santa Cruz, Rio Negro, Santa Fe, and Formosa...
February 9, 2019: International Journal of Legal Medicine
https://read.qxmd.com/read/30737432/integrator-is-a-key-component-of-human-telomerase-rna-biogenesis
#20
M P Rubtsova, D P Vasilkova, M A Moshareva, A N Malyavko, M B Meerson, T S Zatsepin, Y V Naraykina, A V Beletsky, N V Ravin, O A Dontsova
Telomeres are special DNA-protein structures that are located at the ends of linear eukaryotic chromosomes. The telomere length determines the proliferation potential of cells. Telomerase is a key component of the telomere length maintenance system. While telomerase is inactive in the majority of somatic cells, its activity determines the clonogenic potential of stem cells as a resource for tissue and organism regeneration. Reactivation of telomerase occurs during the process of immortalization in the majority of cancer cells...
February 8, 2019: Scientific Reports
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