Journal ArticleDOI
Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm.
TLDR
It is suggested that on the distal portion of the nonfluorescent segment of the long arm of the Y, factors are located controlling spermatogenesis.Abstract:
A deletion of the Y chromosome at the distal portion of band q11 was found in 6 men with normal male habitus but with azoospermia. Five of them were found during a survey of 1170 subfertile males while the sixth was karyotyped because of slight bone abnormalities. These findings, together with a review of the literature, suggest that on the distal portion of the nonfluorescent segment of the long arm of the Y, factors are located controlling spermatogenesis.read more
Citations
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Journal ArticleDOI
Spermatogenesis in a Man with Complete Deletion of USP9Y
Alice Luddi,Maria Margollicci,Laura Gambera,Francesca Serafini,Maddalena Cioni,Vincenzo De Leo,Paolo Balestri,Paola Piomboni +7 more
TL;DR: In this article, the authors characterized a deletion in the ubiquitin-specific peptidase 9 (USP9Y) region of the human Y chromosome that results in an absence of USP 9Y in a normospermic man and his siblings and parents.
Journal ArticleDOI
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1.
Alexandra M. Lopes,Kenneth I. Aston,Emma E. Thompson,Filipa Carvalho,João Gonçalves,Ni Huang,Rune Matthiesen,Michiel J. Noordam,Inés Quintela,Avinash Ramu,Catarina M. Seabra,Amy B. Wilfert,Juncheng Dai,Jonathan M. Downie,Susana Fernandes,Xuejiang Guo,Jiahao Sha,António Amorim,Alberto Barros,Angel Carracedo,Zhibin Hu,Matthew E. Hurles,Sergey I. Moskovtsev,Carole Ober,Darius A. Paduch,Joshua D. Schiffman,Peter N. Schlegel,Mário Sousa,Douglas T. Carrell,Donald F. Conrad +29 more
TL;DR: The combined results indicate that DMRT1 loss-of-function mutations are a risk factor and potential genetic cause of human spermatogenic failure and identifies other recurrent CNVs as potential causes of idiopathic azoospermia.
Journal ArticleDOI
Y;autosome translocations and mosaicism in the aetiology of 45,X maleness: assignment of fertility factor to distal Yq11.
TL;DR: Southern blotting studies with a panel of mapped Y-DNA probes showed that in all three individuals contiguous portions of the Y chromosome including all of the short arm, the centromere, and part of the euchromatic portion of the long arm were present.
Journal ArticleDOI
The Y chromosome as a regulatory element shaping immune cell transcriptomes and susceptibility to autoimmune disease
Laure K. Case,Emma H. Wall,Julie A. Dragon,Naresha Saligrama,Dimitry N. Krementsov,Mohamad Moussawi,James F. Zachary,Sally A. Huber,Elizabeth P. Blankenhorn,Cory Teuscher +9 more
TL;DR: Data are established that susceptibility to two diverse animal models of autoimmune disease, experimental allergic encephalomyelitis (EAE) and experimental myocarditis, correlates with the natural variation in copy number of Sly and Rbmy multicopy ChrY genes.
Journal ArticleDOI
Understanding new genetics of male infertility.
TL;DR: Familiarity with the genes associated with male infertility is essential for the urologist to better understand, diagnose and treat the male factor couple and its emerging and previously unrecognized genetic etiologies.
References
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Journal ArticleDOI
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities.
TL;DR: Data from a chromosome examination of 14,069 consecutive newborn infants is presented, finding 294 babies with a major chromosome abnormality or distinctive marker chromosomes.
Journal ArticleDOI
Possible role for H--Y antigen in the primary determination of sex.
TL;DR: The part that the X chromosome plays in male sexual differentiation has been clarified at the level of an individual gene situated on this chromosome.
Journal ArticleDOI
A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities
TL;DR: The results of the present study when combined with five other comparable studies, thus comprising a total of 46,150 newborn infants, indicates that the frequency of major chromosome abnormalities is between 1:150 and 1:200 live-born babies.
Journal ArticleDOI
Structural abnormalities of the Y chromosome in man.
Patricia A. Jacobs,A. Ross +1 more
Journal ArticleDOI
Chromosome polymorphism in a human newborn population. II. Potentials of polymorphic chromosome variants for characterizing the idiogram of an individual.
TL;DR: The baseline data presented here reinforce the view that polymorphic chromosome characteristics are very useful markers for characterizing the karyotype of an infant born at the Albert Einstein College Hospital, Bronx, New York, and are consistent with the expectations of the Hardy-Weinberg law.
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