Journal ArticleDOI
Genomic heterogeneity and instability of the AZF locus on the human Y chromosome.
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
The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility
TL;DR: AZFc is one of the most genetically dynamic regions in the human genome and may serve as counter against the genetic degeneracy associated with the lack of a meiotic partner, but this property comes at a price: some rearrangements represent a risk factor or a de-facto causative agent of spermatogenic disruption.
Journal ArticleDOI
Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques
E. Clementini,Chiara Palka,Irene Iezzi,Liborio Stuppia,Paolo Guanciali-Franchi,Gian Mario Tiboni +5 more
TL;DR: In this paper, the prevalence of karyotype changes and Yq11 microdeletions among couples referred for assisted reproduction techniques was analyzed in 2078 infertile couples.
Journal ArticleDOI
A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population
Bin Wu,N.X. Lu,Yankai Xia,Aihua Gu,Chuncheng Lu,Wei Wang,Lin Song,S.L. Wang,Hongbing Shen,Xinru Wang +9 more
TL;DR: The classical AZF deletions were the primary genetic factors for spermatogenic failure, while no significant association was found for AZFc subdeletions with sperm concentration, but the b2/b3 sub deletion was significantly associated with idiopathic male infertility, indicating a potential impairment of male fertility.
Journal ArticleDOI
Panel of five microRNAs as potential biomarkers for the diagnosis and assessment of male infertility
Masood Abu-Halima,Mohamad Eid Hammadeh,Christina Backes,Ulrike Fischer,Petra Leidinger,Abdel Monem H. Lubbad,Andreas Keller,Eckart Meese +7 more
TL;DR: The finding suggests that these five miRNAs have potential as novel noninvasive biomarkers to diagnose patients with subfertility and the combination with other conventional tests would improve the diagnostic accuracy for detecting patients with different forms of NOA.
Journal ArticleDOI
The gr/gr deletion(s): a new genetic test in male infertility?
Claudia Giachini,E. Guarducci,Guy Longepied,Selene Degl’Innocenti,L. Becherini,Gianni Forti,Michael J. Mitchell,Csilla Krausz +7 more
TL;DR: Taking into consideration the Y chromosome structure and the suggested deletion mechanism, a number of other possible partial deletions have been proposed in both the AZFb and AZFc regions.
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