Exploring Regulatory Properties of Genes Associated with Nonsyndromic Male Infertility

Hristov, Daniela and Stojanov, Done (2024) Exploring Regulatory Properties of Genes Associated with Nonsyndromic Male Infertility. Reproductive Medicine, 5 (3). pp. 136-153. ISSN 2673-3897

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Abstract

In this study, we analyzed the regulatory properties of 26 (twenty-six) genes associated with nonsyndromic male infertility. We applied an in silico analysis in order to determine the number and distribution of promoters and identify relevant promoter consensus sequences and potential transcription factors. 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.

Item Type: Article
Impact Factor Value: 1.1
Subjects: Natural sciences > Biological sciences
Natural sciences > Computer and information sciences
Medical and Health Sciences > Health sciences
Divisions: Faculty of Computer Science
Depositing User: Done Stojanov
Date Deposited: 06 Aug 2024 06:59
Last Modified: 06 Aug 2024 06:59
URI: https://eprints.ugd.edu.mk/id/eprint/34495

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