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
Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men
João Monteiro de Pina-Neto,Rita de Cássia Viu Carrara,R. Bisinella,L F Mazzucatto,M.D. Martins,E. Sartoratto,R Yamasaki +6 more
TL;DR: The results show the importance of genetic evaluation of infertile males prior to assisted reproduction, which can lead to genetic counseling and, consequently, to primary and secondary prevention of mental retardation and birth defects.
Journal ArticleDOI
Genetic and molecular diagnostics of male infertility in the clinical practice.
TL;DR: This review considers practical genetic and molecular diagnostic tests for male infertility, reporting on the most frequent genetic causes of male infertility and on the pros and cons of most commonly used techniques for genetic, molecular and functional sperm evaluation.
Journal ArticleDOI
Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report.
Sophie Brisset,Vincent Izard,M. Misrahi,Azzedine Aboura,S. Madoux,Sophie Ferlicot,D. Schoevaert,Jean-Claude Soufir,René Frydman,G Tachdjian +9 more
TL;DR: A new case with a de novo unbalanced translocation t(Y;22) and the genotype-phenotype correlation is described, which shows the importance of documenting (Y;autosome) translocations with molecular and testicular tissue analyses.
Journal ArticleDOI
Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest.
TL;DR: The findings strongly support that the massive deletions in the AZFb orAZFb+c regions are important genetic causes of SCO and/or MA resulting in azoospermia and, besides the P5/proximal-P1, P5-distal-P 1 and P4/distal -P1 deletions, there may be other massive deleting in these regions resulting in severe spermatogenic impairment.
Journal ArticleDOI
Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers.
Paulo Navarro-Costa,Paulo Navarro-Costa,Luísa Pereira,Cíntia Alves,Leonor Gusmão,Carmen Proença,Pedro Marques-Vidal,Tiago Rocha,S.C. Correia,Sónia Jorge,António Neves,Ana Paula Soares,Joaquim Nunes,Carlos Calhaz-Jorge,António Amorim,Carlos E. Plancha,João Gonçalves +16 more
TL;DR: The lack of causative association between the deletion of specific gene copies and infertility suggests that AZFc gene content might be part of a multifactorial network, with Y-lineage evolution emerging as a possible phenotype modulator.
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