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https://www.readbyqxmd.com/read/28628011/-criteria-for-selection-of-tumor-cells-and-prospects-for-specific-immunotherapy-for-bladder-cancer
#1
T Slavyanskaya, S -Salnikova, R Sepiashvili
Specific antitumor immunotherapy with autologous dendritic cell vaccines is one of the new approaches of modern medicine. For activation of dendritic cells highly immunogenic antigens are used, however optimal antigens in case of bladder cancer (BC) are still not researched. Cancer-testis antigens (CTA) are the most promising target in the context of creation of antitumor vaccines, because they are distinguished by pronounced immunogenicity, they are detected in different types of tumors and have limited pattern of expression in healthy tissues of grown-up organism...
May 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28626004/sex-chromosome-evolution-heterochiasmy-and-physiological-qtl-in-the-salmonid-brook-charr-salvelinus-fontinalis
#2
Ben J G Sutherland, Ciro Rico, Céline Audet, Louis Bernatchez
Whole genome duplication can have large impacts on genome evolution, and much remains unknown about these impacts. This includes the mechanisms of coping with a duplicated sex determination system and whether this has an impact on increasing the diversity of sex determination mechanisms. Other impacts include sexual conflict, where alleles having different optimums in each sex can result in sequestration of genes into non-recombining sex chromosomes. Sex chromosome development itself may involve sex-specific recombination rate (i...
June 16, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28623801/dna-analysis-of-root-canal-filled-teeth
#3
Hikaru Izawa, Hirofumi Tsutsumi, Sayaka Maruyama, Toshinobu Komuro
Teeth are markedly useful as samples for DNA analysis; however, intact teeth are not always available. This study examined the possibility of identifying autosomal and Y-chromosome short tandem repeat (STR) types in samples from 34 teeth (15 intact and 19 root canal filled) that had been preserved for 10-33years after dental extraction. The aim was to explore the feasibility of individual identification by DNA analysis of samples obtained from highly decomposed and skeletonized corpses. Only one out of 24 autosomal STR loci was not identified in two of the 15 intact teeth, whereas all 23 loci of the Y chromosome STR were detected...
May 10, 2017: Legal Medicine
https://www.readbyqxmd.com/read/28622394/y-chromosomal-analysis-of-greek-cypriots-reveals-a-primarily-common-pre-ottoman-paternal-ancestry-with-turkish-cypriots
#4
Alexandros Heraclides, Evy Bashiardes, Eva Fernández-Domínguez, Stefania Bertoncini, Marios Chimonas, Vasilis Christofi, Jonathan King, Bruce Budowle, Panayiotis Manoli, Marios A Cariolou
Genetics can provide invaluable information on the ancestry of the current inhabitants of Cyprus. A Y-chromosome analysis was performed to (i) determine paternal ancestry among the Greek Cypriot (GCy) community in the context of the Central and Eastern Mediterranean and the Near East; and (ii) identify genetic similarities and differences between Greek Cypriots (GCy) and Turkish Cypriots (TCy). Our haplotype-based analysis has revealed that GCy and TCy patrilineages derive primarily from a single gene pool and show very close genetic affinity (low genetic differentiation) to Calabrian Italian and Lebanese patrilineages...
2017: PloS One
https://www.readbyqxmd.com/read/28620252/an-immunological-approach-of-sperm-sexing-and-different-methods-for-identification-of-x-and-y-chromosome-bearing-sperm
#5
REVIEW
Shiv Kumar Yadav, Dharmendra Kumar Gangwar, Jarnail Singh, Chiranjeev Kumar Tikadar, V Vinoth Khanna, Sudha Saini, Sunny Dholpuria, Prabhat Palta, Radhey Shyam Manik, Manoj Kumar Singh, Suresh Kumar Singla
Separation of X- and Y-chromosome bearing sperm has been practiced for selection of desired sex of offspring to increase the profit in livestock industries. At present, fluorescence-activated cell sorter is the only successful method for separation of X- and Y-chromosome bearing sperm. This technology is based on the differences in DNA content between these two types of sperm and has been commercialized for bovine sperm. However, this technology still has problems in terms of high economic cost, sperm damage, and lower pregnancy rates compared to unsorted semen...
May 2017: Veterinary World
https://www.readbyqxmd.com/read/28619849/the-house-fly-y-chromosome-is-young-and-minimally-differentiated-from-its-ancient-x-chromosome-partner
#6
Richard P Meisel, Christopher A Gonzales, Hoang Luu
Canonical ancient sex chromosome pairs consist of a gene rich X (or Z) chromosome and a male- (or female-) limited Y (or W) chromosome that is gene poor. In contrast to highly differentiated sex chromosomes, nascent sex chromosome pairs are homomorphic or very similar in sequence content. Nascent sex chromosomes can arise if an existing sex chromosome fuses to an autosome or an autosome acquires a new sex-determining locus/allele. Sex chromosomes often differ between closely related species and can even be polymorphic within species, suggesting that nascent sex chromosomes arise frequently over the course of evolution...
June 15, 2017: Genome Research
https://www.readbyqxmd.com/read/28618411/prevalence-and-physical-distribution-of-sry-in-the-gonads-of-a-woman-with-turner-syndrome-phenotypic-presentation-tubal-formation-and-malignancy-risk
#7
Tamar G Baer, Christopher E Freeman, Claudia Cujar, Mahesh Mansukhani, Bahadur Singh, Xiaowei Chen, Rosanna Abellar, Sharon E Oberfield, Brynn Levy
Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du-plicated Yq chromosome...
June 15, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28615043/-like-sugar-in-milk-reconstructing-the-genetic-history-of-the-parsi-population
#8
Gyaneshwer Chaubey, Qasim Ayub, Niraj Rai, Satya Prakash, Veena Mushrif-Tripathy, Massimo Mezzavilla, Ajai Kumar Pathak, Rakesh Tamang, Sadaf Firasat, Maere Reidla, Monika Karmin, Deepa Selvi Rani, Alla G Reddy, Jüri Parik, Ene Metspalu, Siiri Rootsi, Kurush Dalal, Shagufta Khaliq, Syed Qasim Mehdi, Lalji Singh, Mait Metspalu, Toomas Kivisild, Chris Tyler-Smith, Richard Villems, Kumarasamy Thangaraj
BACKGROUND: The Parsis are one of the smallest religious communities in the world. To understand the population structure and demographic history of this group in detail, we analyzed Indian and Pakistani Parsi populations using high-resolution genetic variation data on autosomal and uniparental loci (Y-chromosomal and mitochondrial DNA). Additionally, we also assayed mitochondrial DNA polymorphisms among ancient Parsi DNA samples excavated from Sanjan, in present day Gujarat, the place of their original settlement in India...
June 14, 2017: Genome Biology
https://www.readbyqxmd.com/read/28611256/a-duplicated-truncated-amh-gene-is-involved-in-male-sex-determination-in-an-old-world-silverside
#9
Dilip Kumar Bej, Kaho Miyoshi, Ricardo S Hattori, Carlos A Strüssmann, Yoji Yamamoto
A master sex-determining gene, the Y chromosome-linked anti-Müllerian hormone (amhy), has been described in two New World atheriniform species but little is known on the distribution, evolution, and function(s) of this gene in other Atheriniformes. Interestingly, amhy has been found to coexist with temperature-dependent sex determination (TSD), providing a unique opportunity to explore the interplay between genotypic and environmental sex determination. In this study, the search for an amhy homologue was extended to an Old World atheriniform, the cobaltcap silverside Hypoatherina tsurugae (Atherinidae)...
June 13, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28611019/mechanisms-in-endocrinology-aberrations-of-the-x-chromosome-as-cause-of-male-infertility
#10
Albrecht Röpke, Frank Tüttelmann
Male infertility is most commonly caused by spermatogenetic failure, clinically noted as oligo- or azoospermia. Today, in approximately 20% of azoospermic patients, a causal genetic defect can be identified. The most frequent genetic causes of azoospermia (or severe oligozoospermia) are Klinefelter syndrome (47,XXY), structural chromosomal abnormalities and Y-chromosomal microdeletions. Consistently with Ohno's law, the human X chromosome is the most stable of all the chromosomes, but contrary to Ohno's law, the X chromosome is loaded with regions of acquired, rapidly evolving genes, which are of special interest because they are predominantly expressed in the testis...
June 13, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28596519/the-connection-of-the-genetic-cultural-and-geographic-landscapes-of-transoxiana
#11
Maxat Zhabagin, Elena Balanovska, Zhaxylyk Sabitov, Marina Kuznetsova, Anastasiya Agdzhoyan, Olga Balaganskaya, Marina Chukhryaeva, Nadezhda Markina, Alexey Romanov, Roza Skhalyakho, Valery Zaporozhchenko, Liudmila Saroyants, Dilbar Dalimova, Damir Davletchurin, Shahlo Turdikulova, Yuldash Yusupov, Inkar Tazhigulova, Ainur Akilzhanova, Chris Tyler-Smith, Oleg Balanovsky
We have analyzed Y-chromosomal variation in populations from Transoxiana, a historical region covering the southwestern part of Central Asia. We studied 780 samples from 10 regional populations of Kazakhs, Uzbeks, Turkmens, Dungans, and Karakalpaks using 35 SNP and 17 STR markers. Analysis of haplogroup frequencies using multidimensional scaling and principal component plots, supported by an analysis of molecular variance, showed that the geographic landscape of Transoxiana, despite its distinctiveness and diversity (deserts, fertile river basins, foothills and plains) had no strong influence on the genetic landscape...
June 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28590503/growth-hormone-insensitivity-with-immune-dysfunction-caused-by-a-stat5b-mutation-in-the-south-of-brazil-evidence-for-a-founder-effect
#12
Renata C Scalco, Fernanda T Gonçalves, Hadassa C Santos, Mari M S G Cardena, Carlos A Tonelli, Mariana F A Funari, Rosana M Aracava, Alexandre C Pereira, Cintia Fridman, Alexander A L Jorge
Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples from 1,205 local inhabitants, 48 relatives of the homozygous patients and four individuals of another affected family. Genotyping for STAT5B c.424_427del mutation and for two polymorphic markers around it was done through fragment analysis technique...
June 5, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28588710/the-clinical-analysis-of-small-supernumerary-marker-chromosomes-in-17-children-with-mos-45-x-46-x-mar-karyotype
#13
Hongying Wang, Ting Wang, Naichao Yang, Yaxiang He, Linqi Chen, Liyi Hong, Xuejun Shao, Hong Li, Hong Zhu, Haibo Li
Small supernumerary maker chromosome (sSMC) is a type of structurally abnormal chromosome. In order to identify the origin, morphology and other characteristics of sSMCs in children with mos 45,X/46,X,+mar karyotype, 17 patients (16 females and 1 male) were analyzed. All patients underwent general physical examination, gonadal imaging and molecular cytogenetic analyses, including Giemsa banding, dual-color fluorescence in situ hybridization and detection of the sex-determining region Y gene by polymerase chain reaction...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28585534/one-step-generation-of-complete-gene-knockout-mice-and-monkeys-by-crispr-cas9-mediated-gene-editing-with-multiple-sgrnas
#14
Erwei Zuo, Yi-Jun Cai, Kui Li, Yu Wei, Bang-An Wang, Yidi Sun, Zhen Liu, Jiwei Liu, Xinde Hu, Wei Wei, Xiaona Huo, Linyu Shi, Cheng Tang, Dan Liang, Yan Wang, Yan-Hong Nie, Chen-Chen Zhang, Xuan Yao, Xing Wang, Changyang Zhou, Wenqin Ying, Qifang Wang, Ren-Chao Chen, Qi Shen, Guo-Liang Xu, Jinsong Li, Qiang Sun, Zhi-Qi Xiong, Hui Yang
The CRISPR/Cas9 system is an efficient gene-editing method, but the majority of gene-edited animals showed mosaicism, with editing occurring only in a portion of cells. Here we show that single gene or multiple genes can be completely knocked out in mouse and monkey embryos by zygotic injection of Cas9 mRNA and multiple adjacent single-guide RNAs (spaced 10-200 bp apart) that target only a single key exon of each gene. Phenotypic analysis of F0 mice following targeted deletion of eight genes on the Y chromosome individually demonstrated the robustness of this approach in generating knockout mice...
June 6, 2017: Cell Research
https://www.readbyqxmd.com/read/28585331/the-length-of-y-chromosomal-sequence-reads-in-non-invasive-prenatal-testing-reflect-allogeneic-bone-marrow-transplant
#15
Marie Balslev-Harder, Finn Stener Jørgensen, Susanne Kjaergaard, Peter Johansen
No abstract text is available yet for this article.
June 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28571006/extensive-sex-chromosome-polymorphism-of-microtus-thomasi-microtus-atticus-species-complex-associated-with-cryptic-chromosomal-rearrangements-and-independent-accumulation-of-heterochromatin
#16
Michail T Rovatsos, Juan A Marchal, Ismael Romero-Fernández, Maria Arroyo, Eva B Athanasopoulou, Antonio Sánchez
The sibling species Microtus thomasi and M. atticus represent probably the highest karyotypic diversity within the genus Microtus and are an interesting model for chromosomal evolution studies. In addition to variation in autosomes, they show a high intraspecific variation in the size and morphology of both sex chromosomes. We analyzed individuals with different sex chromosome constitutions using 3 painting probes, 2 from Y chromosome variants and 1 from the small arm of the submetacentric X chromosome. Our comparative painting approach uncovered 12 variants of Y and 14 variants of X chromosomes, which demonstrates that the polymorphism of sex chromosomes is substantially larger than previously reported...
June 2, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28566770/phylogeny-of-y-chromosome-haplogroup-c3b-f1756-an-important-paternal-lineage-in-altaic-speaking-populations
#17
Lan-Hai Wei, Yun-Zhi Huang, Shi Yan, Shao-Qing Wen, Ling-Xiang Wang, Pan-Xin Du, Da-Li Yao, Shi-Lin Li, Ya-Jun Yang, Li Jin, Hui Li
In previous studies, a specific paternal lineage with a null value for the Y-chromosome short tandem repeat (Y-STR) marker DYS448 was identified as common among Mongolic- and Turkic-speaking populations. This paternal lineage (temporarily named C3*-DYS448del) was determined to be M217+, M93-, P39-, M48-, M407-, and P53.1-, and its origin and phylogeny remain ambiguous. Here, we analyzed Y-chromosome sequences of 10 male that are related this paternal lineage and redefined it as C3b1a1a1a-F1756 (C3b-F1756). We generated a highly revised phylogenetic tree of haplogroup C3b-F1756, including 21 sub-clades and 360 non-private Y-chromosome polymorphisms...
June 1, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28566690/fastgt-an-alignment-free-method-for-calling-common-snvs-directly-from-raw-sequencing-reads
#18
Fanny-Dhelia Pajuste, Lauris Kaplinski, Märt Möls, Tarmo Puurand, Maarja Lepamets, Maido Remm
We have developed a computational method that counts the frequencies of unique k-mers in FASTQ-formatted genome data and uses this information to infer the genotypes of known variants. FastGT can detect the variants in a 30x genome in less than 1 hour using ordinary low-cost server hardware. The overall concordance with the genotypes of two Illumina "Platinum" genomes is 99.96%, and the concordance with the genotypes of the Illumina HumanOmniExpress is 99.82%. Our method provides k-mer database that can be used for the simultaneous genotyping of approximately 30 million single nucleotide variants (SNVs), including >23,000 SNVs from Y chromosome...
May 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28561435/comparing-methods-for-fetal-fraction-determination-and-quality-control-of-nipt-samples
#19
Daphne M van Beek, Roy Straver, Marian M Weiss, Elles M J Boon, Karin Huijsdens-van Amsterdam, Cees B M Oudejans, Marcel J T Reinders, Erik A Sistermans
OBJECTIVE: To compare available analysis methods for determining fetal fraction on single read Next Generation Sequencing data. This is important as the performance of Non-invasive Prenatal Testing procedures depends on the fraction of fetal DNA. METHODS: We tested six different methods for the detection of fetal fraction in NIPT samples. The same clinically obtained data were used for all methods, allowing us to assess the effect of fetal fraction on the test result, and to investigate the use of fetal fraction for quality control...
May 31, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28555659/human-y-chromosome-variation-in-the-genome-sequencing-era
#20
REVIEW
Mark A Jobling, Chris Tyler-Smith
The properties of the human Y chromosome - namely, male specificity, haploidy and escape from crossing over - make it an unusual component of the genome, and have led to its genetic variation becoming a key part of studies of human evolution, population history, genealogy, forensics and male medical genetics. Next-generation sequencing (NGS) technologies have driven recent progress in these areas. In particular, NGS has yielded direct estimates of mutation rates, and an unbiased and calibrated molecular phylogeny that has unprecedented detail...
May 30, 2017: Nature Reviews. Genetics
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