scholarly journals Human Y Chromosome and Male Infertility: Forward and Back from Azoospermia Factor Chromatin Structure to Azoospermia Factor Gene Function

2017 ◽  
pp. 57-73 ◽  
Author(s):  
Peter H. Vogt ◽  
U. Bender ◽  
J. Zimmer ◽  
T. Strowitzki
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Gene Function ◽  
Chromatin Structure ◽  
Factor Gene ◽  
Azoospermia Factor ◽  
Human Y Chromosome

The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis

1995 ◽  
Vol 7 (4) ◽  
pp. 685 ◽  
Author(s):  
PH Vogt ◽  
A Edelmann ◽  
P Hirschmann ◽  
MR Kohler
Keyword(s):  
Y Chromosome ◽  
Chromatin Structure ◽  
De Novo ◽  
Screening Programme ◽  
Deletion Mapping ◽  
Azoospermia Factor ◽  
Its Analysis ◽  
Human Y Chromosome

Different Y mutations in Yq11 occurring de novo in sterile males were first described 19 years ago. Since the phenotype of the patients was always associated with azoospermia or severe oligospermia, it was postulated that these mutations interrupt a Y spermatogenesis locus in the euchromatic Y region (Yq11) called azoospermia factor (AZF). Recently, it became possible to map AZF mutations to different subregions in Yq11 by molecular deletion mapping. This indicated that azoospermia is possibly caused by more than one Y gene in Yq11 and the Yq11 chromatin structure. The frequency of AZF mutations in idiopathic sterile males (5-20%) may indicate a need for a general screening programme for its analysis in infertility clinics.

Severe Oligozoospermia Resulting From Deletions of Azoospermia Factor Gene on Y Chromosome

1996 ◽  
Vol 51 (11) ◽  
pp. 675-676
Author(s):  
Renee Reijo ◽  
Raaji K. Alagappan ◽  
Pasquale Patrizio ◽  
David C. Page
Keyword(s):  
Y Chromosome ◽  
Severe Oligozoospermia ◽  
Factor Gene ◽  
Azoospermia Factor

An exon map of the AZFc male infertility region of the human Y Chromosome

1999 ◽  
Vol 10 (1) ◽  
pp. 57-61 ◽  
Author(s):  
Jason Wong ◽  
Patricia Blanco ◽  
Nabeel A. Affara
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Human Y Chromosome

scholarly journals Analysis of DAZ gene expression in a partial AZFc deletion of the human Y chromosome

2014 ◽  
Vol 26 (2) ◽  
pp. 307 ◽  
Author(s):  
Byunghyuk Kim ◽  
Wonkyung Lee ◽  
Kunsoo Rhee ◽  
Soo Woong Kim ◽  
Jae-Seung Paick
Keyword(s):  
Y Chromosome ◽  
Pcr Assay ◽  
Azfc Region ◽  
Azoospermia Factor ◽  
Azfc Deletion ◽  
Deleted In Azoospermia ◽  
Polymerase Chain ◽  
Factor C ◽  
Human Y Chromosome ◽  
Daz Gene

The azoospermia factor c (AZFc) region of the Y chromosome consists of repetitive amplicons and is therefore highly susceptible to structural rearrangements, such as deletions and duplications. The b2/b3 deletion is a partial AZFc deletion that is conventionally determined by the selective absence of sY1191 in sequence-tagged site polymerase chain reaction (PCR) and is generally believed to retain two of the four deleted in azoospermia (DAZ) genes on the Y chromosome. In the present study we determined the copy number and expression of DAZ genes in sY1191-negative individuals. Using a DAZ dosage PCR assay and Southern blot analysis we evaluated the expression of four DAZ genes in five of six sY1191-negative individuals. Furthermore, cloning and immunoblot analyses revealed that three or more DAZ genes are expressed in sY1191-negative testes with germ cells. The results indicate that the selective absence of sY1191 not only means b2/b3 deletion with two DAZ genes, but also includes another AZFc configuration with four DAZ genes. These results exemplify the prevalence of variations in the AZFc region of the human Y chromosome.

The genetic basis of male infertility

1995 ◽  
Vol 4 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Ann C Chandley
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Genetic Basis ◽  
Genetic Component ◽  
Sperm Production ◽  
Azoospermia Factor ◽  
Y Chromosomes ◽  
Fertility Problems ◽  
The Many

Amongst men who attend fertility problems clinics, just over 10% are diagnosed to be oligospermic (< 5 × 106 sperm per ml) or azoospermic, with no known aetiological explanation. Amongst the many possible causes of impaired sperm production there is a genetic component, a pointer to the possible location of some of the responsible genes being found in 1976 when Tiepolo and Zuffardi discovered six azoospermic individuals with a deleted Y chromosome. In each individual, the long arm of the Y chromosome had lost its distal fluorescent segment as well as part of the nonfluorescent euchromatin lying proximal to it (Figure 1). They hypothesized that factors important in spermatogenesis might lie at the interface between fluorescent and nonfluorescent material. The locus, AZFor ‘azoospermia factor’, was subsequently mapped, using collections of deleted Y chromosomes, to interval six of the long arm and it lies within cytological band Yq11.23 (Figure 2).

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