Journal ArticleDOI
Genomic heterogeneity and instability of the AZF locus on the human Y chromosome.
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TLDR
A genetic redundancy of the multi-copy genes in AZFb and AZFc and a causative relationship between the occurrence of first microdeletions then macro deletions in the repetitive structure of Yq11 is suggested where large palindromes are probably promoting multiple gene conversions andAZF rearrangements.About:
This article is published in Molecular and Cellular Endocrinology.The article was published on 2004-09-30. It has received 88 citations till now. The article focuses on the topics: Azoospermia factor.read more
Citations
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Journal ArticleDOI
Genetic and epigenetic factors: Role in male infertility
TL;DR: In the era of assisted reproduction technology, it is important to understand the genetic basis of infertility to provide maximum adapted therapeutics and counseling to the couple.
Journal ArticleDOI
Mendelian genetics of male infertility
Kathleen Hwang,Alexander N. Yatsenko,Carolina J. Jorgez,Sarmistha Mukherjee,Roopa L. Nalam,Martin M. Matzuk,Dolores J. Lamb +6 more
TL;DR: With the advent of assisted reproductive techniques (ART), the authors are now able to overcome sterility and bypass nature's protective mechanisms that developed through evolution to prevent fertilization by defective or deficient sperm.
Journal ArticleDOI
Meiotic recombination and male infertility: from basic science to clinical reality?
TL;DR: This review will present a summary of current knowledge on the genetic origin of male infertility and the key events of male meiosis, focusing on chromosome synapsis and meiotic recombination and the problems that arise when errors in these processes occur.
Journal ArticleDOI
Primary male infertility in Kuwait: a cytogenetic and molecular study of 289 infertile Kuwaiti patients.
TL;DR: The potential risk of transmitting these genetic disorders to offspring provides a rationale for screening infertile men prior to ICSI, and the frequency of both chromosomal anomalies and Y microdeletions were found in 10.4% of the infertiles men.
Journal ArticleDOI
Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion
Mehdi Totonchi,Anahita Mohseni Meybodi,Parnaz Borjian Boroujeni,Mohammad Ali Sedighi Gilani,Navid Almadani,Hamid Gourabi +5 more
TL;DR: The study has confirmed that the detection of microdeletions in the AZF region is significant from a diagnostic viewpoint and useful to obtain reliable genetic information from infertile men to determine the etiology of the deletions, and to avoid unnecessary treatments and vertical transmission of genetic defects.
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
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
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.
TL;DR: It is suggested that on the distal portion of the nonfluorescent segment of the long arm of the Y, factors are located controlling spermatogenesis.
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