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

Vogt, Peter H.; Edelmann, A; Hirschmann, P.N.; Köhler, Michael

doi:10.1071/rd9950685

Cited by 59 publications

(37 citation statements)

References 40 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Most cases of severe spermatogenic failure occur as a result of Yq- chromosome deletions [10]. Intra-chromosomal recombination events between large homologous repetitive sequence blocks, lead to AZF microdeletions [15].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion

Totonchi

Meybodi

Boroujeni

et al. 2012

J Assist Reprod Genet

View full text Add to dashboard Cite

summary Detection of Y-chromosome microdeletion is useful to obtain reliable genetic information for assisted reproductive techniques, thus avoiding unnecessary treatment and vertical transmission of genetic defects. Purposes This research was conducted over a six-year period to analyze clinical data, somatic cytogenetic abnormalities, and types of microdeletions in men with fertility disorders in Iran. Methods and Patients A total of 3654 infertile men were included in this study. Semen samples were analyzed according to standard methods. Conventional chromosomal karyotyping was used to analyze chromosome abnormalities.Polymerase chain reaction (PCR) amplification using nine specific sequence-tagged sites (STS) was used to detect AZF microdeletions. Results Out of the 3654 patients who were analyzed, AZF region microdeletions were detected in 185 cases (5.06 %). Karyotype analysis was available for 157 men and among them abnormal karyotypes were found in 51 cases (32.48 %). One hundred and forty-seven cases with Yq microdeletions suffered from azoospermia and 38 from severe oligozoospermia. Our data show that the most frequent microdeletions were in the AZFc region, followed by the AZFb+c+d, AZFb+c, AZFb, AZFa, and AZF a+c regions. Conclusion The study has confirmed that the detection of microdeletions in the AZF region is significant from a diagnostic viewpoint. It is also useful to obtain reliable genetic information from infertile men to determine the etiology of the deletions, and to avoid unnecessary treatments and vertical transmission of genetic defects.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Detection of microdeletions on the Y-chromosome was based on three multiplex PCRs [10,11]. As summarized in Table 1, there are nine STS amplified in three multiplex PCRs.…”

Section: Yq Microdeletion Screeningmentioning

confidence: 99%

Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion

Totonchi

Meybodi

Boroujeni

et al. 2012

J Assist Reprod Genet

View full text Add to dashboard Cite

show abstract

“…Several factors including lifestyle interactions between somatic and sex chromosome genes together contribute to the function of spermatogenesis (Lin et al, 1998) and the Yqchromosome deletions are the most common de novo cause of severe spermatogenetic defect (Vogt et al, 1995). The eukaryotic genome is highly fragile, and due to this instability, some crucial factors may alter the pathological state of infertility.…”

Section: Discussionmentioning

confidence: 99%

Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients

Pandey¹,

Pandey²,

Gupta³

et al. 2010

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Infertility is a major reproductive health threat; the frequency of male infertility due to Y-chromosome microdeletions is 13-18% in the human population; these microdeletions involve recurrent loss of three non-overlapping regions designated as AZFa, AZFb and AZFc, associated with spermatogenic failure. Several contradictory reports have been published regarding deletion frequency based on sequence-tagged site markers and genotypephenotype correlation. We examined the prevalence of Yq-deletion in 64 clinically diagnosed infertile male patients. We found a 3% frequency of microdeletion of the AZFc region; hormone profiles (FSH, LH and testosterone) showed significantly (P < 0.001) elevated levels compared to controls. No mutations were observed in the AZFa and AZFb regions, perhaps due to the selective use of sequencetagged site markers.

show abstract

“…However, this chromosome variability was stable in family pedigrees and able to assign individuals to specific populations. A functional active AZF chromatin domain was therefore first proposed, visible by the decondensation of the Y chromosome in the nuclei of spermatogonia before it pairs with the X chromosome forming a condensed X-Y chromatin structure in the spermatocyte nuclei Vogt et al, 1995).…”

Section: Introductionmentioning

confidence: 99%

AZF deletions and Y chromosomal haplogroups: history and update based on sequence

Vogt

2005

Human Reproduction Update

121

View full text Add to dashboard Cite

AZF deletions are genomic deletions in the euchromatic part of the long arm of the human Y chromosome (Yq11) associated with azoospermia or severe oligozoospermia. Consequently, it can be assumed that these deletions remove Y chromosomal genes required for spermatogenesis. However, these 'classical' or 'complete' AZF deletions, AZFa, AZFb and AZFc, represent only a subset of rearrangements in Yq11. With the benefit of the Y chromosome sequence, more rearrangements (deletions, duplications, inversions) inside and outside the classical AZF deletion intervals have been elucidated and intra-chromosomal non-allelic homologous recombinations (NAHRs) of repetitive sequence blocks have been identified as their major cause. These include duplications in AZFa, AZFb and AZFc and the partial AZFb and AZFc deletions of which some were summarized under the pseudonym 'gr/gr' deletions. At least some of these rearrangements are associated with distinct Y chromosomal haplogroups and are present with similar frequencies in fertile and infertile men. This suggests a functional redundancy of the AZFb/AZFc multi-copy genes. Alternatively, the functional contribution(s) of these genes to human spermatogenesis might be different in men of different Y haplogroups. That raises the question whether, the frequency of Y haplogroups with different AZF gene contents in distinct human populations leads to a male fertility status that varies between populations or whether, the presence of the multiple Y haplogroups implies a balancing selection via genomic deletion/amplification mechanisms.

show abstract

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

Cited by 59 publications

References 40 publications

Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion

Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion

Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients

AZF deletions and Y chromosomal haplogroups: history and update based on sequence

Contact Info

Product

Resources

About