X chromosome gene essential for sperm cell development and male fertility, says new study

In a new study, scientists at the CSIR-Centre for Cellular and Molecular Biology have identified, for the first time, that X chromosome gene is essential for sperm cell development and male fertility.

ByPTI

Published May 16, 2024 | 11:08 PMUpdatedMay 16, 2024 | 11:10 PM

X chromosome gene essential for sperm cell development and male fertility, says new study

Researchers from Hyderabad-based CSIR-Centre for Cellular and Molecular Biology and other institutions have identified, for the first time, that X chromosome gene (TEX13B) is essential for sperm cell development and male fertility.

The CSIR-Centre for Cellular and Molecular Biology (CCMB) said on Thursday, 16 May, that approximately, one in every seven couples are infertile worldwide.

The male factors account for 50 per cent of the total infertility due to abnormal semen parameters, such as low sperm count, abnormal motility of sperm, abnormal sperm shape and size.

One of the important factors behind these causes is the genetic factor.

In a new multi-institutional study, scientists at the CSIR-Centre for Cellular and Molecular Biology, “identified, for the first time, that the gene TEX13B is essential for sperm cell development and male fertility”, a CCMB release said.

The study has recently been published in the journal Human Reproduction.

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Causes of male infertility

“Using next generation sequencing, we compared all the gene coding regions (exons) between infertile and fertile males. We found two causative mutations in the TEX13B gene, of which one was exclusively found in infertile men and other one is found much more frequently in infertile men compared to fertile control men,” said Umesh Kumar, the first author who was a PhD student of CCMB.

The researchers have developed a cell culture model of mouse sperm-producing cells by knocking out the Tex13b gene using ‘CRISPR-Cas9’ technology.

They found that the loss of Tex13b gene reduces the respiratory ability of the cells. They also found that Tex13b controls energy metabolism in the sperm-producing cells. Together, they argue that this affects the formation of new sperm cells, the release said.

“The findings of this study would be useful for screening infertile males with spermatogenic failure and counselling them before the implementation of assisted reproduction technique(s),” said Vinay Kumar Nandicoori, Director, CCMB.

The study reminds how genetic trait transmissions can be more complex, and more nuanced than it is superficially thought, the release said.

“The TEX13B is present on the X chromosome, which all males receive only from their mothers, and not from their fathers. It means that the mother who carries the faulty TEX13B is fertile (as she carries two X chromosomes),” K Thangaraj, a leading scientist at the CCMB said.

“But, when she transmits the X chromosome with the faulty TEX13B, her son becomes infertile. This is not what we generally expect to be an underlying cause of male infertility,” Thangaraj added.

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