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
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Journal ArticleDOI
Chromosomal defects in infertile men with poor semen quality.
Myriam Ghorbel,Siwar Gargouri Baklouti,Fatma Ben Abdallah,Nacira Zribi,Mariem Cherif,Rim Keskes,Nozha Chakroun,Afifa Sellami,Neila Belguith,Hassen Kamoun,Faiza Fakhfakh,Leila Ammar-Keskes +11 more
TL;DR: The occurrence of chromosomal abnormalities among infertile males strongly suggests the need for routine genetic testing and counseling prior to the employment of assisted reproduction techniques.
Journal ArticleDOI
Analysis of 62 hybrid assembled human Y chromosomes exposes rapid structural changes and high rates of gene conversion.
Laurits Skov,Mikkel H. Schierup +1 more
TL;DR: An evolutionary analysis of 62 Y-chromosomes of Danish descent sequenced using a wide range of library insert sizes and high coverage, thus allowing large regions of these chromosomes to be well assembled, finds clear evidence for GC-biased gene conversion in the palindromes and also a strong bias towards gene conversion towards the ancestral state.
Journal ArticleDOI
Genetics of Azoospermia: Current Knowledge, Clinical Implications, and Future Directions. Part I
TL;DR: In the recent decade, a parallel progress has been made in the understanding of the genetics of men with azoospermia and the treatment modalities for these patients.
Journal ArticleDOI
Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population.
Yuan Yang,Mingyi Ma,Lu-Yuan Li,Dan Su,Peng Chen,Yongyi Ma,Yongsheng Liu,Dachang Tao,Li Lin,Sizhong Zhang +9 more
TL;DR: This study provided further evidence for the existence of multiple subtypes of gr/ gr deletion and indicates that gr/gr-DAZ1/DAZ2 deletion is a significant risk factor for spermatogenic impairment, however, the association of the phenotypic variation ofgr/gr deletion with Y-chromosomal haplogroups is not definite yet, because of the limited amounts of the deletions observed in each of the haplog groups and the lack of the quantitative trait analyses such
Journal ArticleDOI
Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia
Manon S. Oud,Liliana Ramos,Moira K O'Bryan,Robert I McLachlan,Ozlem Okutman,Stéphane Viville,Petra de Vries,Dominique Smeets,Dorien Lugtenberg,Jayne Y. Hehir-Kwa,Christian Gilissen,Maartje van de Vorst,Lisenka E.L.M. Vissers,Alexander Hoischen,A.M. Meijerink,Kathrin Fleischer,Joris A. Veltman,Joris A. Veltman,Michiel J Noordam +18 more
TL;DR: A flexible and scalable method to reliably detect genetic causes of male infertility is developed that consolidates the detection of different types of genetic variation while increasing the diagnostic yield and detection precision at the same or lower price compared with currently used methods.
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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