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A team of scientists at the Hyderabad-based CSIR-Centre For Cellular and Molecular Biology (CCMB) have identified eight novel genes that were defective in some men with regard to fertility.
The research group of K Thangaraj has been researching to understand the genetic causes of male infertility for the last two decades.
They have shown earlier that about 38 per cent males with infertility have specific regions missing or abnormalities in their Y chromosomes or mutations in their mitochondrial and autosomal genes.
“Their new multi-institutional study focuses on the cause of infertility in the rest of the cases, which constitutes the majority of infertility-affected men. They have identified eight novel genes that were defective in these men in India. The study has been recently published online in the journal Human Molecular Genetics,” CCMB said in a release.
Thangaraj, lead investigator of this study and presently Director of the DBT-Centre for DNA Fingerprinting and Diagnostics, Hyderabad said: “We identified a total of eight genes that were not known earlier for their role in human male fertility”.
He further added that they have identified variations (mutations) in these genes that cause impaired sperm production leading to male infertility.
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Sudhakar Digumarthi, lead author of the study, who was a PhD student of CCMB and presently scientist at ICMR-National Institute for Research in Reproductive and Child Health in Mumbai, said: “We first sequenced all the essential regions of all genes (around 30,000 of them) using next generation sequencing in 47 well-characterised infertile men. We then validated the identified genetic changes in about 1,500 infertile men from different parts of India.’‘
The researchers have characterised a mutation in one of the eight genes, Centrin 1 (CETN1), to understand how the mutation affects sperm production, the release added.
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