Identification of differentially expressed genes in human testis biopsies with defective spermatogenesis.

IF 2.7 3区医学 Q2 OBSTETRICS & GYNECOLOGY

Reproductive Medicine and Biology Pub Date : 2024-12-15 eCollection Date: 2024-01-01 DOI:10.1002/rmb2.12616

Shashika D Kothalawala, Stefan Günther, Hans-Christian Schuppe, Adrian Pilatz, Florian Wagenlehner, Sabine Kliesch, Liza O'Donnell, Daniela Fietz

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引用次数: 0

Abstract

Purpose: Sperm morphology and motility are major contributors to male-factor infertility, with many genes predicted to be involved. This study aimed to elucidate differentially expressed transcripts in human testis tissues of normal and abnormal spermatogenesis that could reveal new genes that may regulate sperm morphology and function.

Methods: Human testis biopsies were collected from men with well-characterized phenotypes of normal spermatogenesis, spermatid arrest, and Sertoli cell-only phenotype, and transcriptional differences were quantified by RNA-sequencing (RNA-Seq). Differentially expressed genes (DEGs) were filtered based on predominant expression in spermatids and gene functional annotations relevant to sperm morphology and motility. Selected 10 DEGs were validated by qRT-PCR and the localization of two proteins was determined in testis biopsies.

Results: The analysis revealed 6 genes (SPATA31E1, TEKT3, SLC9C1, PDE4A, CFAP47, and TNC) that are excellent candidates for novel genes enriched in developing human sperm. The immunohistochemical localization of two proteins, ORAI1 and SPATA31E1, in testis biopsies, verified that both are expressed in developing human germ cells, with SPATA31E1 enriched in late spermatocytes and spermatids.

Conclusion: This study identified human germ cell-enriched genes that could play functional roles in spermiogenesis and could thus be important in the development of morphologically normal, motile sperm.

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鉴定精子发生缺陷的人类睾丸活检组织中的差异表达基因。

目的：精子形态和活力是男性不育的主要因素，许多基因被预测参与其中。本研究旨在阐明正常和异常精子发生的人类睾丸组织中差异表达的转录本，从而揭示可能调控精子形态和功能的新基因。方法：收集具有正常精子发生表型、精子细胞阻滞表型和仅支持细胞表型的男性睾丸活检，并通过rna测序（RNA-Seq）量化转录差异。差异表达基因（differential expression genes, DEGs）是根据精子中的显性表达和与精子形态和运动相关的基因功能注释进行筛选的。通过qRT-PCR验证所选的10个deg，并在睾丸活检中确定两个蛋白的定位。结果：分析发现6个基因（SPATA31E1、TEKT3、SLC9C1、PDE4A、CFAP47和TNC）是发育中的人类精子中富集的新基因的极好候选基因。在睾丸活检组织中，两种蛋白ORAI1和SPATA31E1的免疫组织化学定位证实，两者都在发育中的人类生殖细胞中表达，SPATA31E1富集于晚期精母细胞和精母细胞。结论：本研究确定了人类生殖细胞富集基因，这些基因可能在精子发生中发挥功能作用，因此可能在形态正常、运动精子的发育中起重要作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Reproductive Medicine and Biology Multiple-

CiteScore

5.70

自引率

5.90%

发文量

审稿时长

20 weeks

期刊介绍： Reproductive Medicine and Biology (RMB) is the official English journal of the Japan Society for Reproductive Medicine, the Japan Society of Fertilization and Implantation, the Japan Society of Andrology, and publishes original research articles that report new findings or concepts in all aspects of reproductive phenomena in all kinds of mammals. Papers in any of the following fields will be considered: andrology, endocrinology, oncology, immunology, genetics, function of gonads and genital tracts, erectile dysfunction, gametogenesis, function of accessory sex organs, fertilization, embryogenesis, embryo manipulation, pregnancy, implantation, ontogenesis, infectious disease, contraception, etc.