Journal ArticleDOI
Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection.
Sjoerd Repping,Helen Skaletsky,Laura G. Brown,Saskia K.M. van Daalen,Cindy M. Korver,Tatyana Pyntikova,Tomoko Kuroda-Kawaguchi,Tomoko Kuroda-Kawaguchi,Jan W.A de Vries,Robert D. Oates,Sherman J. Silber,Fulco van der Veen,David C. Page,Steve Rozen +13 more
Reads0
Chats0
TLDR
It is suggested that the existence of this deletion as a polymorphism reflects a balance between haploid selection, which culls gr/gr-deleted Y chromosomes from the population, and homologous recombination, which continues to generate newgr/gr deletions.Abstract:
Many human Y-chromosomal deletions are thought to severely impair reproductive fitness, which precludes their transmission to the next generation and thus ensures their rarity in the population. Here we report a 1.6-Mb deletion that persists over generations and is sufficiently common to be considered a polymorphism. We hypothesized that this deletion might affect spermatogenesis because it removes almost half of the Y chromosome's AZFc region, a gene-rich segment that is critical for sperm production. An association study established that this deletion, called gr/gr, is a significant risk factor for spermatogenic failure. The gr/gr deletion has far lower penetrance with respect to spermatogenic failure than previously characterized Y-chromosomal deletions; it is often transmitted from father to son. By studying the distribution of gr/gr-deleted chromosomes across the branches of the Y chromosome's genealogical tree, we determined that this deletion arose independently at least 14 times in human history. We suggest that the existence of this deletion as a polymorphism reflects a balance between haploid selection, which culls gr/gr-deleted Y chromosomes from the population, and homologous recombination, which continues to generate new gr/gr deletions.read more
Citations
More filters
Journal ArticleDOI
Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment
Chuncheng Lu,Jie Jiang,Ruyang Zhang,Ying Wang,Miaofei Xu,Yufeng Qin,Yuan Lin,Xuejiang Guo,Bixian Ni,Yang Zhao,Nancy Diao,Feng Chen,Hongbing Shen,Jiahao Sha,Yankai Xia,Zhibin Hu,Xinru Wang +16 more
TL;DR: It is indicated that the DAZ, BPY2 genes may be prominent players in spermatogenesis, and genomic rearrangements may be enriched in individuals belonging to Y-hg O1.
Journal ArticleDOI
Microarray detection of Y chromosome deletions associated with male infertility.
E Osborne,E Osborne,Michael Lynch,Robert I McLachlan,Robert I McLachlan,Alan O Trounson,David S. Cram,David S. Cram +7 more
TL;DR: It is demonstrated that array-CGH may be an alternative approach to multiplex PCR for the diagnosis of known Yq deletions and potentially a useful tool for the discovery of other Y chromosome deletions/polymorphisms associated with defective spermatogenesis.
Book ChapterDOI
Human Y chromosome microdeletion analysis by PCR multiplex protocols identifying only clinically relevant AZF microdeletions.
Peter H. Vogt,U. Bender +1 more
TL;DR: This work proposes that a PCR multiplex assay aimed to reduce only those AZF microdeletions causing a specific testicular pathology-thus relevant for clinical applications and includes Sequence Tagged Site (STS) deletion markers inside the exon structures of the Y genes known to be expressed in male germ cells and located in the three AZF regions.
Journal ArticleDOI
Sex, rebellion and decadence: the scandalous evolutionary history of the human Y chromosome.
TL;DR: Understanding to what extent the idiosyncrasies of Y recombination may impact this chromosome's role in sex determination and male germline functions should be regarded as essential for added clinical insight into several male infertility phenotypes.
Journal ArticleDOI
Transmissible microdeletion of the Y-chromosome encompassing two DAZ copies, four RBMY1 copies, and both PRY copies.
TL;DR: PRY is not indispensable to complete spermatogenesis; and with two RBMY1 and two DAZ copies, complete sPermatogenesis can be conserved.
References
More filters
Journal ArticleDOI
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
Helen Skaletsky,Tomoko Kuroda-Kawaguchi,Patrick Minx,Holland S. Cordum,LaDeana W. Hillier,Laura G. Brown,Sjoerd Repping,Tatyana Pyntikova,Johar Ali,Tamberlyn Bieri,Asif T. Chinwalla,Andrew Delehaunty,Kim D. Delehaunty,Hui Du,Ginger A. Fewell,Lucinda Fulton,Robert S. Fulton,Tina Graves,Shunfang Hou,Philip Latrielle,Shawn Leonard,Elaine R. Mardis,Rachel Maupin,John Douglas Mcpherson,Tracie L. Miner,William E. Nash,Christine Nguyen,Philip Ozersky,Kymberlie H. Pepin,Susan M. Rock,Tracy Rohlfing,Kelsi Scott,Brian Schultz,Cindy Strong,Aye Mon Tin-Wollam,Shiaw-Pyng Yang,Robert H. Waterston,Richard K. Wilson,Steve Rozen,David C. Page +39 more
TL;DR: The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length, and is a mosaic of heterochromatic sequences and three classes of euchromatics sequences: X-transposed, X-degenerate and ampliconic.
Journal ArticleDOI
Human Y Chromosome Azoospermia Factors (AZF) Mapped to Different Subregions in Yq11
Peter H. Vogt,A. Edelmann,S. Kirsch,O. Henegariu,P. Hirschmann,F. Kiesewetter,Frank-Michael Köhn,W.-B. Schill,S. Farah,C. Ramos,M. Hartmann,W. Hartschuh,D. Meschede,Hermann M. Behre,A. Castel,Eberhard Nieschlag,Wolfgang Weidner,Hermann Josef Gröne,A. Jung,Wolfgang Engel,Gerhard Haidl +20 more
TL;DR: The presence of not one but three spermatogenesis loci in Yq11 is proposed and that each locus is active during a different phase of male germ cell development.
Journal ArticleDOI
Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene
Renee Reijo,Tien-Yi Lee,Pia Salo,Raaji Alagappan,Laura G. Brown,Michael A. Rosenberg,Michael A. Rosenberg,Steve Rozen,Tom Jaffe,Donald Straus,Outi Hovatta,Albert de la Chapelle,Sherman J. Silber,David C. Page +13 more
TL;DR: The region contains a single–copy gene, DAZ (Deleted in AZoospermia), which is transcribed in the adult testis and appears to encode an RNA binding protein, and the possibility that DAZ is AZF should now be explored.
Journal ArticleDOI
Y chromosome sequence variation and the history of human populations
Peter A. Underhill,Peidong Shen,A. A. Lin,Li Jin,Giuseppe Passarino,Wei-Hsien Yang,Kauffman E,Batsheva Bonne-Tamir,Jaume Bertranpetit,Paolo Francalacci,Muntaser E. Ibrahim,Trefor Jenkins,Kidd,S.Q. Mehdi,Mark Seielstad,R. S. Wells,Alberto Piazza,Ronald W. Davis,Marcus W. Feldman,Luigi Luca Cavalli-Sforza,Peter J. Oefner +20 more
TL;DR: Binary polymorphisms associated with the non-recombining region of the human Y chromosome (NRY) preserve the paternal genetic legacy of the authors' species that has persisted to the present, permitting inference of human evolution, population affinity and demographic history.
Journal ArticleDOI
The human Y chromosome: an evolutionary marker comes of age
TL;DR: The availability of the near-complete chromosome sequence, plus many new polymorphisms, a highly resolved phylogeny and insights into its mutation processes, now provide new avenues for investigating human evolution.
Related Papers (5)
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes.
Helen Skaletsky,Tomoko Kuroda-Kawaguchi,Patrick Minx,Holland S. Cordum,LaDeana W. Hillier,Laura G. Brown,Sjoerd Repping,Tatyana Pyntikova,Johar Ali,Tamberlyn Bieri,Asif T. Chinwalla,Andrew Delehaunty,Kim D. Delehaunty,Hui Du,Ginger A. Fewell,Lucinda Fulton,Robert S. Fulton,Tina Graves,Shunfang Hou,Philip Latrielle,Shawn Leonard,Elaine R. Mardis,Rachel Maupin,John Douglas Mcpherson,Tracie L. Miner,William E. Nash,Christine Nguyen,Philip Ozersky,Kymberlie H. Pepin,Susan M. Rock,Tracy Rohlfing,Kelsi Scott,Brian Schultz,Cindy Strong,Aye Mon Tin-Wollam,Shiaw-Pyng Yang,Robert H. Waterston,Richard K. Wilson,Steve Rozen,David C. Page +39 more