Ontology highlight
ABSTRACT:
PROVIDER: PRJNA509073 | ENA |
REPOSITORIES: ENA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| SRR8293840_1.fastq.gz | Fastqsanger.gz | |||
| SRR8293840_2.fastq.gz | Fastqsanger.gz | |||
| SRR8293850_1.fastq.gz | Fastqsanger.gz | |||
| SRR8293850_2.fastq.gz | Fastqsanger.gz | |||
| SRR8293841_1.fastq.gz | Fastqsanger.gz |
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Project description:Aberrant sperm flagella impair sperm motility and cause male infertility, yet the genes which have been identified in multiple morphological abnormalities of the flagella (MMAF) can only explain the pathogenic mechanisms of MMAF in a small number of cases. Here, we identify and functionally characterize homozygous loss-of-function mutations of QRICH2 in two infertile males with MMAF from two consanguineous families. Remarkably, Qrich2 knock-out (KO) male mice constructed by CRISPR-Cas9 technology present MMAF phenotypes and sterility. To elucidate the mechanisms of Qrich2 functioning in sperm flagellar formation, we perform proteomic analysis on the testes of KO and wild-type mice. Furthermore, in vitro experiments indicate that QRICH2 is involved in sperm flagellar development through stabilizing and enhancing the expression of proteins related to flagellar development. Our findings strongly suggest that the genetic mutations of human QRICH2 can lead to male infertility with MMAF and that QRICH2 is essential for sperm flagellar formation.
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Project description:The problem of the male reproductive system has both medical and social importance. It is highlighted that spermatozoa or seminal plasma are suitable samples for proteomic analysis of the male reproductive system. We suggested that the ejaculate could serve as one of the analytic specimens to determine fertility, which obtainable with relative ease and which contains many proteins. Moreover, the testis-specific proteins could form the basis of protein panel for detecting disorders associated with male infertility. The current study aimed to examine the ejaculate proteome compared to the spermatozoa and seminal plasma proteomes to determine a panel of proteins that can be used to assess sperm quality. Our results showed that the ejaculate represented a productive source for understanding the male reproductive physiology and could serve as a potential origin for the identification of novel protein biomarkers related to spermatozoa function in infertile. We believe that proteomic analysis based on testis-specific proteins of ejaculate along with spermatozoa (or even instead) can be useful for distinguishing the fertile, sub fertile, and infertile men.
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