What is it about?

In this study, we analyzed the regulatory properties of 26 (twenty-six) genes associated with nonsyndromic male infertility. Main findings: - Underlining the concept of alternative transcriptional initiation (ATI), we have found that 65.4% of genes associated with nonsyndromic male infertility have 1 (one) to 6 (six) promoters, located in the region 1 kb upstream of the TSS, and 41% of them are located at a position below −500 bp. - Although the TATA box consensus sequence TAWAAA, such as W is A or T, appears at a common location in all genes, it is shifted for at least 10 bp in the EFCAB9 gene. - The C2H2 zinc finger is found to be the most significant common transcription factor, binding genes’ promoters GLIS1, ZSCAN21, GLIS3, GLIS1, ZNF770, ZNF780A, ZNF81, and ZNF264. On the other hand, basic leucine zipper factors (bZIPs) bind the JUNB gene promoter specifically, exhibiting unique regulatory properties of all genes associated with nonsyndromic male infertility. - Two genes, NANOS1 and ZMYND15, are expected to be less susceptible to DNA methylation, due to the high density of CpG content found in their promoter regions.

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Why is it important?

This study highlights the importance of gaining a deeper understanding of the complex network of elements regulating the expression of male infertility-associated genes. By clarifying the presence of multiple promoters, identifying candidate transcription factor binding motifs, and revealing functional developments, we have shed light on the complex regulatory networks leading to male infertility.

Perspectives

Our findings not only deepen our understanding of the molecular mechanisms underlying male infertility, but also hold promise for advancing diagnostic approaches in this field.

Ph.D Done Stojanov
Univerzitet Goce Delcev Stip

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This page is a summary of: Exploring Regulatory Properties of Genes Associated with Nonsyndromic Male Infertility, Reproductive Medicine, August 2024, MDPI AG,
DOI: 10.3390/reprodmed5030013.
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