Human Y-chromosome variation in the genome-sequencing era

[1]  Yali Xue,et al.  Human Y chromosome copy number variation in the next generation sequencing era and beyond , 2017, Human Genetics.

[2]  Kari Stefansson,et al.  Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility , 2017, Nature Genetics.

[3]  M. Jobling,et al.  Detecting past male-mediated expansions using the Y chromosome , 2017, Human Genetics.

[4]  M. Kayser.  Forensic use of Y-chromosome DNA: a general overview , 2017, Human Genetics.

[5]  C. Tyler-Smith,et al.  Genetic differentiation between upland and lowland populations shapes the Y-chromosomal landscape of West Asia , 2017, Human Genetics.

[6]  T. Kivisild.  The study of human Y chromosome variation through ancient DNA , 2017, Human Genetics.

[7]  Jan P. Dumanski,et al.  Mosaicism in health and disease — clones picking up speed , 2016, Nature Reviews Genetics.

[8]  D. Skuse,et al.  Cognitive, behavioral, and neural consequences of sex chromosome aneuploidy , 2017, Journal of neuroscience research.

[9]  F. Calafell,et al.  The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research , 2016, Human Genetics.

[10]  C. Tyler-Smith,et al.  Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration , 2017, BMC Evolutionary Biology.

[11]  P. Underhill,et al.  Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families. , 2016, American journal of human genetics.

[12]  P. Moorjani,et al.  Human Germline Mutation and the Erratic Evolutionary Clock , 2016, bioRxiv.

[13]  J. McPherson,et al.  Coming of age: ten years of next-generation sequencing technologies , 2016, Nature Reviews Genetics.

[14]  Maria Cerezo,et al.  Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences , 2016, Nature Genetics.

[15]  C. Lindgren,et al.  Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease , 2016, American journal of human genetics.

[16]  C. Tyler-Smith,et al.  Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates. , 2016, American journal of human genetics.

[17]  Heidi Ledford,et al.  AstraZeneca launches project to sequence 2 million genomes , 2016, Nature.

[18]  C. Bustamante,et al.  The Divergence of Neandertal and Modern Human Y Chromosomes , 2016, American journal of human genetics.

[19]  Shane A. McCarthy,et al.  Deep Roots for Aboriginal Australian Y Chromosomes , 2016, Current Biology.

[20]  Jian Gu,et al.  Mosaic loss of chromosome Y is associated with common variation near TCL1A , 2016, Nature Genetics.

[21]  P. Noveski,et al.  Loss of Y Chromosome in Peripheral Blood of Colorectal and Prostate Cancer Patients , 2016, PloS one.

[22]  C. Capelli,et al.  The relationship between surname frequency and Y chromosome variation in Spain , 2015, European Journal of Human Genetics.

[23]  C. Tyler-Smith,et al.  Ancient DNA and the rewriting of human history: be sparing with Occam’s razor , 2016, Genome Biology.

[24]  P. Argani,et al.  TMSB4Y is a candidate tumor suppressor on the Y chromosome and is deleted in male breast cancer , 2015, Oncotarget.

[25]  S. Machherndl-Spandl,et al.  New data shed light on Y‐loss‐related pathogenesis in myelodysplastic syndromes , 2015, Genes, chromosomes & cancer.

[26]  Evan E. Eichler,et al.  Genetic variation and the de novo assembly of human genomes , 2015, Nature Reviews Genetics.

[27]  Fang Fang,et al.  DDX3Y gene rescue of a Y chromosome AZFa deletion restores germ cell formation and transcriptional programs , 2015, Scientific Reports.

[28]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[29]  Vivien Marx,et al.  The DNA of a nation , 2015, Nature.

[30]  Søren Brunak,et al.  Population genomics of Bronze Age Eurasia , 2015, Nature.

[31]  C. Tyler-Smith,et al.  Structural variation on the human Y chromosome from population-scale resequencing , 2015, Croatian medical journal.

[32]  M. Jobling,et al.  Large-scale recent expansion of European patrilineages shown by population resequencing , 2015, Nature Communications.

[33]  Tomas W. Fitzgerald,et al.  Copy number variation in the human Y chromosome in the UK population , 2015, Human Genetics.

[34]  J. Greeff,et al.  Three hundred years of low non-paternity in a human population , 2015, Heredity.

[35]  Valdis B. Guðmundsdóttir,et al.  The Y-chromosome point mutation rate in humans , 2015, Nature Genetics.

[36]  C. Tyler-Smith,et al.  Deep Phylogenetic Analysis of Haplogroup G1 Provides Estimates of SNP and STR Mutation Rates on the Human Y-Chromosome and Reveals Migrations of Iranic Speakers , 2015, PloS one.

[37]  Michael C. Westaway,et al.  A recent bottleneck of Y chromosome diversity coincides with a global change in culture , 2015, Genome research.

[38]  Francesc Calafell,et al.  Y-chromosome diversity in Catalan surname samples: insights into surname origin and frequency , 2015, European Journal of Human Genetics.

[39]  Swapan Mallick,et al.  Massive migration from the steppe was a source for Indo-European languages in Europe , 2015, Nature.

[40]  Lars Lind,et al.  Smoking is associated with mosaic loss of chromosome Y , 2015, Science.

[41]  Chiara Batini,et al.  The Y-Chromosome Tree Bursts into Leaf: 13,000 High-Confidence SNPs Covering the Majority of Known Clades , 2014, Molecular biology and evolution.

[42]  M. Okano,et al.  Cohort Study , 2020, Definitions.

[43]  Heng Li,et al.  Genome sequence of a 45,000-year-old modern human from western Siberia , 2014, Nature.

[44]  Molly Przeworski,et al.  Determinants of mutation rate variation in the human germline. , 2014, Annual review of genomics and human genetics.

[45]  C. Thermes,et al.  Ten years of next-generation sequencing technology. , 2014, Trends in genetics : TIG.

[46]  T. Iwamoto,et al.  Y Chromosome gr/gr Subdeletion Is Associated with Lower Semen Quality in Young Men from the General Japanese Population but Not in Fertile Japanese Men1 , 2014, Biology of reproduction.

[47]  R. Scozzari,et al.  Inter- and Intraspecies Phylogenetic Analyses Reveal Extensive X–Y Gene Conversion in the Evolution of Gametologous Sequences of Human Sex Chromosomes , 2014, Molecular biology and evolution.

[48]  Lars Lind,et al.  Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer , 2014, Nature Genetics.

[49]  H. Kaessmann,et al.  Origins and functional evolution of Y chromosomes across mammals , 2014, Nature.

[50]  C. Tyler-Smith,et al.  Gene Conversion Violates the Stepwise Mutation Model for Microsatellites in Y-Chromosomal Palindromic Repeats , 2014, Human mutation.

[51]  K. Veeramah,et al.  The impact of whole-genome sequencing on the reconstruction of human population history , 2014, Nature Reviews Genetics.

[52]  M. Stoneking,et al.  Human paternal and maternal demographic histories: insights from high-resolution Y chromosome and mtDNA sequences , 2014, bioRxiv.

[53]  Natalie M. Myres,et al.  An unbiased resource of novel SNP markers provides a new chronology for the human Y chromosome and reveals a deep phylogenetic structure in Africa , 2014, Genome research.

[54]  Yungang He,et al.  Y Chromosomes of 40% Chinese Descend from Three Neolithic Super-grandfathers , 2022 .

[55]  Melissa A. Wilson Sayres,et al.  Natural Selection Reduced Diversity on Human Y Chromosomes , 2013, PLoS genetics.

[56]  T. Wenseleers,et al.  Low historical rates of cuckoldry in a Western European human population traced by Y-chromosome and genealogical data , 2013, Proceedings of the Royal Society B: Biological Sciences.

[57]  C. Tyler-Smith,et al.  A comparison of Y-chromosomal lineage dating using either resequencing or Y-SNP plus Y-STR genotyping☆ , 2013, Forensic science international. Genetics.

[58]  S. Tofanelli,et al.  Low-Pass DNA Sequencing of 1200 Sardinians Reconstructs European Y-Chromosome Phylogeny , 2013, Science.

[59]  G. Abecasis,et al.  Sequencing Y Chromosomes Resolves Discrepancy in Time to Common Ancestor of Males Versus Females , 2013, Science.

[60]  P. Balaresque,et al.  Recombination Dynamics of a Human Y-Chromosomal Palindrome: Rapid GC-Biased Gene Conversion, Multi-kilobase Conversion Tracts, and Rare Inversions , 2013, PLoS genetics.

[61]  T. Manolio,et al.  eXclusion: toward integrating the X chromosome in genome-wide association analyses. , 2013, American journal of human genetics.

[62]  D. Tao,et al.  A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion. , 2013, Human molecular genetics.

[63]  Mark G Thomas,et al.  An African American paternal lineage adds an extremely ancient root to the human Y chromosome phylogenetic tree. , 2013, American journal of human genetics.

[64]  Tomas W. Fitzgerald,et al.  Genetic basis of Y-linked hearing impairment. , 2013, American journal of human genetics.

[65]  Ignazio Carbone,et al.  A calibrated human Y-chromosomal phylogeny based on resequencing , 2013, Genome research.

[66]  D. Bachtrog,et al.  Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration , 2013, Nature Reviews Genetics.

[67]  Eran Halperin,et al.  Identifying Personal Genomes by Surname Inference , 2013, Science.

[68]  S. Rozen,et al.  AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes. , 2012, American journal of human genetics.

[69]  G. Magoon,et al.  Discovery of Western European R1b1a2 Y Chromosome Variants in 1000 Genomes Project Data: An Online Community Approach , 2012, PloS one.

[70]  Nilesh J Samani,et al.  Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome , 2012, The Lancet.

[71]  P. de Knijff,et al.  A new future of forensic Y-chromosome analysis: rapidly mutating Y-STRs for differentiating male relatives and paternal lineages. , 2012, Forensic science international. Genetics.

[72]  E. Heyer,et al.  Sex‐specific demographic behaviours that shape human genomic variation , 2012, Molecular ecology.

[73]  P. de Knijff,et al.  Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. , 2010, American journal of human genetics.

[74]  Linda Odenthal-Hesse,et al.  PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans , 2010, Nature Genetics.

[75]  Winston Rojas,et al.  Genetic make up and structure of Colombian populations by means of uniparental and biparental DNA markers. , 2010, American journal of physical anthropology.

[76]  P. Underhill,et al.  Footprints of X-to-Y gene conversion in recent human evolution. , 2010, Molecular biology and evolution.

[77]  P. de Knijff,et al.  Inferring Continental Ancestry of Argentineans from Autosomal, Y‐Chromosomal and Mitochondrial DNA , 2010, Annals of human genetics.

[78]  Guido Barbujani,et al.  A Predominantly Neolithic Origin for European Paternal Lineages , 2010, PLoS biology.

[79]  S. Rozen,et al.  Remarkably little variation in proteins encoded by the Y chromosome's single-copy genes, implying effective purifying selection. , 2009, American journal of human genetics.

[80]  C. Tyler-Smith,et al.  TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. , 2009, The Journal of clinical endocrinology and metabolism.

[81]  Huanming Yang,et al.  Human Y Chromosome Base-Substitution Mutation Rate Measured by Direct Sequencing in a Deep-Rooting Pedigree , 2009, Current Biology.

[82]  M. Jobling,et al.  What's in a name? Y chromosomes, surnames and the genetic genealogy revolution. , 2009, Trends in genetics : TIG.

[83]  P. Balaresque,et al.  Gene conversion between the X chromosome and the male-specific region of the Y chromosome at a translocation hotspot. , 2009, American journal of human genetics.

[84]  Monique Borgerhoff Mulder,et al.  Bateman's principles and human sex roles , 2009, Trends in ecology & evolution.

[85]  C. Tyler-Smith,et al.  The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene. , 2009, The New England journal of medicine.

[86]  M. Jobling,et al.  Founders, Drift, and Infidelity: The Relationship between Y Chromosome Diversity and Patrilineal Surnames , 2009, Molecular biology and evolution.

[87]  M. Jobling.  Copy number variation on the human Y chromosome , 2009, Cytogenetic and Genome Research.

[88]  Yoav Gilad,et al.  Sex-specific genetic architecture of human disease , 2008, Nature Reviews Genetics.

[89]  A. Swerdlow,et al.  Mortality in women with turner syndrome in Great Britain: a national cohort study. , 2008, The Journal of clinical endocrinology and metabolism.

[90]  G. Balercia,et al.  Partial AZFc deletions and duplications: clinical correlates in the Italian population , 2008, Human Genetics.

[91]  R. Lovell-Badge,et al.  Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer , 2008, Nature.

[92]  Peter A Underhill,et al.  Use of y chromosome and mitochondrial DNA population structure in tracing human migrations. , 2007, Annual review of genetics.

[93]  A. Swerdlow,et al.  Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study , 2007, Human Genetics.

[94]  Roland A H van Oorschot,et al.  Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. , 2007, Human molecular genetics.

[95]  J. Wilkins.  Unraveling male and female histories from human genetic data. , 2006, Current opinion in genetics & development.

[96]  D. Conrad,et al.  Global variation in copy number in the human genome , 2006, Nature.

[97]  Julian Lange,et al.  High mutation rates have driven extensive structural polymorphism among human Y chromosomes , 2006, Nature Genetics.

[98]  S. Ballereau,et al.  Genetic Signatures of Coancestry within Surnames , 2006, Current Biology.

[99]  K. McElreavey,et al.  Y chromosome variants and male reproductive function. , 2006, International journal of andrology.

[100]  Brian P Mcevoy,et al.  A Y-chromosome signature of hegemony in Gaelic Ireland. , 2006, American journal of human genetics.

[101]  Daniel G. Bradley,et al.  Y-chromosomes and the extent of patrilineal ancestry in Irish surnames , 2006, Human Genetics.

[102]  C. Tyler-Smith,et al.  Recent spread of a Y-chromosomal lineage in northern China and Mongolia. , 2005, American journal of human genetics.

[103]  M. Pike,et al.  The Y deletion gr/gr and susceptibility to testicular germ cell tumor. , 2005, American journal of human genetics.

[104]  David L. Steffen,et al.  The DNA sequence of the human X chromosome , 2005, Nature.

[105]  Geoffrey B. Nilsen,et al.  Whole-Genome Patterns of Common DNA Variation in Three Human Populations , 2005, Science.

[106]  Q. Z. Li,et al.  Y-linked inheritance of non-syndromic hearing impairment in a large Chinese family , 2004, Journal of Medical Genetics.

[107]  S. Rozen,et al.  A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. , 2004, Genomics.

[108]  C. Tyler-Smith,et al.  A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. , 2004, American journal of human genetics.

[109]  Giovanni Destro-Bisol,et al.  The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time. , 2004, American journal of human genetics.

[110]  S. Rozen,et al.  Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection , 2003, Nature Genetics.

[111]  Chris Tyler-Smith,et al.  The human Y chromosome: an evolutionary marker comes of age , 2003, Nature Reviews Genetics.

[112]  T. Graves,et al.  The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes , 2003, Nature.

[113]  Steve Rozen,et al.  Abundant gene conversion between arms of palindromes in human and ape Y chromosomes , 2003, Nature.

[114]  Suling Zhu,et al.  The genetic legacy of the Mongols. , 2003, American journal of human genetics.

[115]  A. Redd,et al.  A nomenclature system for the tree of human Y-chromosomal binary haplogroups. , 2002, Genome research.

[116]  M. Hammer,et al.  Gene Flow from the Indian Subcontinent to Australia Evidence from the Y Chromosome , 2002, Current Biology.

[117]  R. Shaler,et al.  Validation and casework application of a Y chromosome specific STR multiplex. , 2001, Forensic science international.

[118]  M. Stoneking,et al.  Human mtDNA and Y-chromosome variation is correlated with matrilocal versus patrilocal residence , 2001, Nature Genetics.

[119]  P. Knijff.  Messages through Bottlenecks: On the Combined Use of Slow and Fast Evolving Polymorphic Markers on the Human Y Chromosome , 2000 .

[120]  J. Crow.  The origins, patterns and implications of human spontaneous mutation , 2000, Nature Reviews Genetics.

[121]  H. Bandelt,et al.  The ancestry of Brazilian mtDNA lineages. , 2000, American journal of human genetics.

[122]  P. de Knijff.  Messages through bottlenecks: on the combined use of slow and fast evolving polymorphic markers on the human Y chromosome. , 2000, American journal of human genetics.

[123]  D. Page,et al.  Four evolutionary strata on the human X chromosome. , 1999, Science.

[124]  C. Tyler-Smith,et al.  A selective difference between human Y-chromosomal DNA haplotypes , 1998, Current Biology.

[125]  P. Donnelly,et al.  Jefferson fathered slave's last child , 1998, Nature.

[126]  Eric Minch,et al.  Genetic evidence for a higher female migration rate in humans , 1998, Nature Genetics.

[127]  Chris Tyler-Smith,et al.  Reliability of DNA-based sex tests , 1998, Nature Genetics.

[128]  C. Tyler-Smith,et al.  Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. , 1997, American journal of human genetics.

[129]  P. de Knijff,et al.  Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. , 1997, Human molecular genetics.

[130]  K. Raphael,et al.  EVIDENCE OF SEX DIFFERENCES , 1997 .

[131]  C. Tyler-Smith,et al.  The Y chromosome in forensic analysis and paternity testing , 1997, International Journal of Legal Medicine.

[132]  A. Edelmann,et al.  Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. , 1996, Human molecular genetics.

[133]  J. W. Whiting,et al.  Regions Based on Social Structure , 1996, Current Anthropology.

[134]  Michael F. Hammer,et al.  A recent common ancestry for human Y chromosomes , 1995, Nature.

[135]  J. Sulston,et al.  41 kilobases of analyzed sequence from the pseudoautosomal and sex-determining regions of the short arm of the human Y chromosome. , 1995, Genomics.

[136]  P. Beer-Romero,et al.  Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for turner syndrome , 1990, Cell.

[137]  A. Sinclair,et al.  Genetic evidence equating SRY and the testis-determining factor , 1990, Nature.

[138]  Robin Lovell-Badge,et al.  A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif , 1990, Nature.

[139]  Paul Steinfeld,et al.  A general overview , 1986 .

[140]  D. Botstein,et al.  Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution , 1984, Nature.

[141]  R. Doll,et al.  Change of Human Chromosome Count Distributions with Age: Evidence for a Sex Difference , 1963, Nature.