The role of human and mouse Y chromosome genes in male infertility

2000 ◽  
Vol 23 (10) ◽  
pp. 630-645 ◽  
Author(s):  
Nabeel A. Affara ◽  
M. J. Mitchell
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Human And Mouse

scholarly journals Deficiency in the Multicopy Sycp3-Like X-Linked Genes Slx and Slxl1 Causes Major Defects in Spermatid Differentiation

2010 ◽  
Vol 21 (20) ◽  
pp. 3497-3505 ◽  
Author(s):  
Julie Cocquet ◽  
Peter J. I. Ellis ◽  
Yasuhiro Yamauchi ◽  
Jonathan M. Riel ◽  
Thomas P. S. Karacs ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Sex Chromosome ◽  
Sperm Count ◽  
Small Interfering Rnas ◽  
Normal Sperm ◽  
Multiple Copies ◽  
Multicopy Genes ◽  
Microarray Analyses ◽  
Human And Mouse

The human and mouse sex chromosomes are enriched in multicopy genes required for postmeiotic differentiation of round spermatids into sperm. The gene Sly is present in multiple copies on the mouse Y chromosome and encodes a protein that is required for the epigenetic regulation of postmeiotic sex chromosome expression. The X chromosome carries two multicopy genes related to Sly: Slx and Slxl1. Here we investigate the role of Slx/Slxl1 using transgenically-delivered small interfering RNAs to disrupt their function. We show that Slx and Slxl1 are important for normal sperm differentiation and male fertility. Slx/Slxl1 deficiency leads to delay in spermatid elongation and sperm release. A high proportion of delayed spermatids are eliminated via apoptosis, with a consequent reduced sperm count. The remaining spermatozoa are abnormal with impaired motility and fertilizing abilities. Microarray analyses reveal that Slx/Slxl1 deficiency affects the metabolic processes occurring in the spermatid cytoplasm but does not lead to a global perturbation of sex chromosome expression; this is in contrast with the effect of Sly deficiency which leads to an up-regulation of X and Y chromosome genes. This difference may be due to the fact that SLX/SLXL1 are cytoplasmic while SLY is found in the nucleus and cytoplasm of spermatids.

scholarly journals The role of modern technologies in the management of azoospermia using microdissection TESE in the framework of the ECF-ICSI program. A literature review. Part I.

2012 ◽  
Vol 58 (5) ◽  
pp. 66-74
Author(s):  
I I Vitiazeva ◽  
S V Bogoliubov ◽  
I I Dedov
Keyword(s):  
Prognostic Factors ◽  
Literature Review ◽  
Male Infertility ◽  
Y Chromosome ◽  
Modern Methods ◽  
Modern Classification ◽  
Modern Technologies ◽  
Azf Region

The present review is focused on the modern methods for the treatment of male infertility related to obstructive and unobstructive azoospermia. The criteria and prognostic factors for obtaining spermatozoa by means of invasive manipulations on the testicles are considered. Special attention is given to the results of investigations into the state of the AZF-region of Y-chromosome and of the studies of patients presenting with Klinefelter's syndrome. The modern classification of testicular biopsies is presented that allows to discriminate between different forms of compromised spermatogenesis.

The role of the Y chromosome in male infertility

2001 ◽  
Vol 3 (3) ◽  
pp. 1-16 ◽  
Author(s):  
Nabeel A. Affara
Keyword(s):  
Cell Differentiation ◽  
Male Infertility ◽  
Germ Cell ◽  
Candidate Gene ◽  
Y Chromosome ◽  
Comparative Data ◽  
Male Germ Cell ◽  
Functional Genes ◽  
Germ Cell Differentiation

It was suggested by Ronald Fisher in 1931 that genes that benefit the male (including those required for spermatogenesis) would accumulate on the Y chromosome. Following the discovery that microdeletions of the Y chromosome were associated with diverse spermatogenic phenotypes, at least three intervals that contain one or more genes controlling male germ-cell differentiation have been identified in humans. These intervals, named AZFa, AZFb and AZFc, have been mapped, cloned and examined in detail for the presence of functional genes. In this review, I have discussed the genes that map to the AZF intervals and the evidence indicating which ones are the most likely candidates underlying Y-linked male infertility. In addition, I have considered the analysis of key intervals on the mouse Y chromosome, where it provides comparative data supporting the role of a candidate gene in an infertility phenotype.

THE ROLE OF THE Y CHROMOSOME IN MALE INFERTILITY

2004 ◽  
Vol 11 (2-3) ◽  
pp. 67-85 ◽  
Author(s):  
NABEEL A AFFARA
Keyword(s):  
Male Infertility ◽  
Y Chromosome

scholarly journals The role of Y chromosome deletions in male infertility

2000 ◽  
pp. 418-430 ◽  
Author(s):  
K Ma ◽  
C Mallidis ◽  
S Bhasin
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Genetic Research ◽  
Gene Families ◽  
Azoospermia Factor ◽  
The World ◽  
Number Of Genes ◽  
Chromosome Deletions ◽  
Or Gene

Male infertility affects approximately 2-7% of couples around the world. Over one in ten men who seek help at infertility clinics are diagnosed as severely oligospermic or azoospermic. Recent extensive molecular studies have revealed that deletions in the azoospermia factor region of the long arm of the Y chromosome are associated with severe spermatogenic impairment (absent or severely reduced germ cell development). Genetic research into male infertility, in the last 7 years, has resulted in the isolation of a great number of genes or gene families on the Y chromosome, some of which are believed to influence spermatogenesis.

scholarly journals Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY

1999 ◽  
Vol 14 (7) ◽  
pp. 1710-1716 ◽  
Author(s):  
A. Ferlin ◽  
E. Moro ◽  
A. Garolla ◽  
C. Foresta
Keyword(s):  
Male Infertility ◽  
Candidate Genes ◽  
Y Chromosome ◽  
Human Male ◽  
Chromosome Deletions

The Effect of PDE5 Inhibitors on the Male Reproductive Tract

2020 ◽  
Vol 26 ◽  
Author(s):  
Nikolaos Sofikitis ◽  
Aris Kaltsas ◽  
Fotios Dimitriadis ◽  
Jens Rassweiler ◽  
Nikolaos Grivas ◽  
...  
Keyword(s):  
Male Infertility ◽  
Reproductive Tract ◽  
Tunica Albuginea ◽  
Scientific Data ◽  
Secretory Function ◽  
Pde5 Inhibitors ◽  
Male Reproductive Tract ◽  
Review Study ◽  
Phosphodiesterase 5

The therapeutic range of cyclic nucleotide phosphodiesterase 5 inhibitors (PDE5) inhibitors is getting wider in the last years. This review study focuses on the potential employment of PDE5 inhibitors as an adjunct tool for the therapeutic management of male infertility. The literature tends to suggest a beneficial effect of PDE5 inhibitors on Leydig and Sertoli cells secretory function. It also appears that PDE5 inhibitors play a role in the regulation of the contractility of the testicular tunica albuginea and the epididymis. Moreover scientific data suggest that PDE5 inhibitors enhance the prostatic secretory function leading to an improvement in sperm motility. Other studies additionally demonstrate a role of PDE5 inhibitors in the regulation of sperm capacitation process. Placebo-controlled, randomized, blind studies are necessary to unambiguously incorporate PDE5 inhibitors as an adjunct tool for the pharmaceutical treatment of semen disorders and male infertility.

scholarly journals 588 Essential role of periostin in inflammation-associated melanoma progression in human and mouse

2017 ◽  
Vol 137 (10) ◽  
pp. S293
Author(s):  
F. Ohno ◽  
T. Nakahara ◽  
M. Nakahara ◽  
S. Nunomura ◽  
K. Izuhara ◽  
...  
Keyword(s):  
Essential Role ◽  
Melanoma Progression ◽  
Human And Mouse

scholarly journals Role of Fibulin 3 in Aging-Related Joint Changes and Osteoarthritis Pathogenesis in Human and Mouse Knee Cartilage

2017 ◽  
Vol 69 (3) ◽  
pp. 576-585 ◽  
Author(s):  
Akihiko Hasegawa ◽  
Tomo Yonezawa ◽  
Noboru Taniguchi ◽  
Koji Otabe ◽  
Yukio Akasaki ◽  
...  
Keyword(s):  
Knee Cartilage ◽  
Human And Mouse
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