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.

Mapping the human Y chromosome

1988 ◽  
Vol 322 (1208) ◽  
pp. 125-131 ◽  
Keyword(s):  
Y Chromosome ◽  
Dna Sequences ◽  
Physical Map ◽  
Sex Reversal ◽  
Chromosomal Anomalies ◽  
Deletion Mapping ◽  
Molecular Analyses ◽  
Large Size ◽  
Definition Of ◽  
Human Y Chromosome

This paper reviews past and present trends in mapping the human Y chromosome. So far, mapping has essentially used a combination of cytogenetic and molecular analyses of Y-chromosomal anomalies and sex reversal syndromes. This deletion mapping culminated recently in the isolation of the putative sex-determining locus TDF . With the availability of new separation and cloning techniques suited for large size fragments (over 100 kilobases), the next step will consist rather in the establishment of a physical map of fragments of known physical sizes. This may allow the definition of several variants of the human Y chromosome differing by the order or location of DNA sequences along the molecule.

scholarly journals Deletion mapping of H-Y antigen to the long arm of the human Y chromosome

Genomics ◽  
1992 ◽  
Vol 13 (4) ◽  
pp. 1255-1260 ◽  
Author(s):  
Michael A. Cantrell ◽  
Jonathan S. Bogan ◽  
Elizabeth Simpson ◽  
James N. Bicknell ◽  
Els Goulmy ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Deletion Mapping ◽  
Human Y Chromosome

Deletion mapping of interval 6 of the human Y chromosome

1991 ◽  
Vol 87 (2) ◽  
pp. 234-236 ◽  
Author(s):  
Maciej Kotecki ◽  
Jadwiga Jaruzelska ◽  
Malgorzata Skowrońska ◽  
Piotr Fichna
Keyword(s):  
Y Chromosome ◽  
Deletion Mapping ◽  
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.

ART do not increase the risk of Y-chromosome microdeletion in 19 candidate genes at AZF regions

2014 ◽  
Vol 26 (6) ◽  
pp. 778 ◽  
Author(s):  
Xiao-Hong Liu ◽  
Li-Ying Yan ◽  
Cui-Ling Lu ◽  
Rong Li ◽  
Xiao-Hui Zhu ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Y Chromosome ◽  
De Novo ◽  
Statistical Significance ◽  
Chinese Han ◽  
Azoospermia Factor ◽  
Y Chromosome Microdeletion ◽  
Han Ethnicity ◽  
Significant Difference ◽  
Natural Conception

Y-chromosome microdeletions (YCMs) have been found at a much higher rate in infertile men than fertile controls. A specific deletion in the azoospermia factor locus (AZF) at Yq11 is significantly associated with male infertility. Whether assisted reproductive technology (ART) increases the risk of YCM in ART-derived offspring remains unclear. In this study the occurrence of YCM in 199 fathers and their 228 sons (Chinese, Han ethnicity), including 85 offspring conceived by IVF, 73 by intra-cytoplasmic sperm injection (ICSI) and 70 by natural conception, was investigated. Nineteen candidate genes related to YCM were analysed by multiplex ligation-dependent probe amplification. We identified one de novo YCM from 70 naturally-conceived offspring and none from 158 ART-conceived offspring and found no statistical significance between these two groups. There was no statistically-significant difference in the detection rate of the father’s Y-chromosome microdeletion group: IVF 10.7% (8/75), ICSI 3.2% (2/63), natural conception 8.2% (5/61). These results suggest that ART does not increase the risk of YCM in male offspring.

Azoospermia Factor a (AZFa) sub-region of human Y-chromosome: A review

Meta Gene ◽  
2017 ◽  
Vol 13 ◽  
pp. 124-128 ◽  
Author(s):  
Mili Nailwal ◽  
Jenabhai B. Chauhan
Keyword(s):  
Y Chromosome ◽  
Azoospermia Factor ◽  
Human Y Chromosome

scholarly journals Genetic Dissection of the AZF Regions of the Human Y Chromosome: Thriller or Filler for Male (In)fertility?

2010 ◽  
Vol 2010 ◽  
pp. 1-18 ◽  
Author(s):  
Paulo Navarro-Costa ◽  
Carlos E. Plancha ◽  
João Gonçalves
Keyword(s):  
Y Chromosome ◽  
Male Fertility ◽  
Molecular Mechanisms ◽  
Gene Families ◽  
Comprehensive Analysis ◽  
Gene Content ◽  
Genetic Dissection ◽  
Azoospermia Factor ◽  
Or Gene ◽  
Human Y Chromosome

The azoospermia factor (AZF) regions consist of three genetic domains in the long arm of the human Y chromosome referred to as AZFa, AZFb and AZFc. These are of importance for male fertility since they are home to genes required for spermatogenesis. In this paper a comprehensive analysis of AZF structure and gene content will be undertaken. Particular care will be given to the molecular mechanisms underlying the spermatogenic impairment phenotypes associated to AZF deletions. Analysis of the 14 different AZF genes or gene families argues for the existence of functional asymmetries between the determinants; while some are prominent players in spermatogenesis, others seem to modulate more subtly the program. In this regard, evidence supporting the notion thatDDX3Y,KDM5D,RBMY1A1,DAZ, andCDYrepresent key AZF spermatogenic determinants will be discussed.

scholarly journals Expansion and De Novo Occurrence of Y Chromosome Microdeletions Occurring via Natural Vertical Transmission in Northeastern China

2012 ◽  
Vol 40 (3) ◽  
pp. 1182-1191 ◽  
Author(s):  
R-L Dai ◽  
L-K Sun ◽  
X Yang ◽  
L-L Li ◽  
H-B Zhu ◽  
...  
Keyword(s):  
Y Chromosome ◽  
De Novo ◽  
Reproductive Hormones ◽  
Northeastern China ◽  
Enzyme Linked Immunosorbent Assay ◽  
Azoospermia Factor ◽  
Y Chromosome Microdeletions ◽  
Polymerase Chain ◽  
Primary Male ◽  
Negative Controls

OBJECTIVE: To determine characteristics of classical and partial deletions of the Y chromosome azoospermia factor (AZF) region transmitted from father to son by natural fertilization. METHODS: Patients from northeastern China with primary male infertility ( n = 10) and their fathers were investigated. Healthy fertile men and women were recruited as positive and negative controls, respectively. The Y chromosome microdeletions were detected by polymerase chain reaction. Serum concentrations of reproductive hormones were determined by electrochemiluminescence immunoassay and enzyme-linked immunosorbent assay. RESULTS: Expansions of microdeletions were observed in seven father-son pairs; de novo microdeletions were found in the remaining three father-son pairs. The Y chromosome microdeletions were larger in sons than in their fathers. Patients with infertility had significantly higher levels of follicle stimulating hormone and lower levels of inhibin B than fertile men. CONCLUSIONS: The Y chromosome micro deletions were transmitted from father to son via natural transmission. These microdeletions may expand during transmission or arise de novo, possibly resulting in reduced fertility.

scholarly journals Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses

2000 ◽  
Vol 9 (15) ◽  
pp. 2291-2296 ◽  
Author(s):  
C. Sun ◽  
H. Skaletsky ◽  
S. Rozen ◽  
J. Gromoll ◽  
E. Nieschlag ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Azoospermia Factor ◽  
Human Y Chromosome
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