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
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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
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Journal ArticleDOI
In silico prediction of structure and functions for some proteins of male-specific region of the human Y chromosome.
TL;DR: The results of these structure-functional annotations provide a comprehensive view of the proteins encoded by MSY, which sheds light on their biological functions and molecular mechanisms.
Dissertation
Diverse outcomes of homologous recombination in the human Y chromosome
TL;DR: This thesis demonstrates that a region of the MSY thought to be recombinationally suppressed with the X chromosome does undergo extensive X-Y gene conversion and shows that massive MSY-specific palindromes, which maintain arm-toarm sequence identity via gene conversion, are also the targets of crossing over.
Best Practice & Research Clinical Endocrinology & Metabolism
TL;DR: The complete diagnostic workup is important for the identification of treatable/reversible or health-threatening conditions, selection of patients for assisted reproductive techniques, and appropriate genetic counselling including preventive measures to safeguard the health of future offspring.
Journal ArticleDOI
Genetische Grundlagen der andrologischen Subfertilität
TL;DR: The major genetic causes of male subfertility are presented and the corresponding practical consequences for the clinic discussed, and the häufigsten genetischen Ursachen der männlichen Subfertilität vorgestellt and die sich daraus ergebenden Konsequenzen f for the Klinik diskutiert.
References
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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.
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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