A386G transition in &lt;i&gt; DAZL&lt;/i&gt; gene is not associated with spermatogenic failure in Tamil Nadu, South India

S Manonayaki,J Poongothai,TS Gopenath

doi:10.4103/0971-6866.42322

Abstract

The DAZ-like (DAZL) gene located on the short arm of autosomal chromosome 3 (3p24), an essential master gene for the premeiotic development of male and female germ cells, is the father of the Y-chromosome DAZ gene cluster and encodes for RNA-binding proteins. Reported instances of positive association of DAZL gene mutations with infertility in men have been found in a Taiwanese population but not in Caucasians. There is no study from Tamil Nadu, South India, to demonstrate the role of DAZL gene in male infertility; we, therefore, analyzed a total of 287 men, including 147 infertile and 140 normozoospermic fertile controls from rural areas of Tamil Nadu, South India, to assess the phenotypic effect of DAZL mutations in this region of the world. Interestingly, all our samples showed absence of the A386G (T54A) mutation that was found to be associated with spermatogenic failure in the Taiwanese population. Therefore, we suggest that the A386G (T54A) mutation is not associated with male infertility in Tamil Nadu, South India.

Highlights

The DAZ-like (DAZL) gene located on the short arm of autosomal chromosome 3 (3p24), an essential master gene for the premeiotic development of male and female germ cells, is the father of the Y-chromosome DAZ gene cluster and encodes for RNA-binding proteins
The large majority of microdeletions in infertile patients occur in the AZFc regions, where the DAZ gene cluster is located
There were few reports giving the evidence of the involvement of the autosomal gene

Summary

Introduction

The DAZ-like (DAZL) gene located on the short arm of autosomal chromosome 3 (3p24), an essential master gene for the premeiotic development of male and female germ cells, is the father of the Y-chromosome DAZ gene cluster and encodes for RNA-binding proteins. Reported instances of positive association of DAZL gene mutations with infertility in men have been found in a Taiwanese population but not in Caucasians. 287 men, including 147 infertile and 140 normozoospermic fertile controls from rural areas of Tamil Nadu, South India, to assess the phenotypic effect of DAZL mutations in this region of the world. All our samples showed absence of the A386G (T54A) mutation that was found to be associated with spermatogenic failure in the Taiwanese population. The DAZ gene family is located in the distal euchromatic part of the long arm of the human Y chromosome (Yq11.23) in the so-called AZFc Among cases with Yq microdeletions, deletion involving the DAZ gene family is the most frequent Þnding

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