Abstract
BackgroundBromodomain-containing protein 7 (BRD7), a member of the bromodomain-containing protein family, plays important roles in chromatin modification and transcriptional regulation. A recent model of Brd7-knockout mice presented azoospermia and male infertility, implying the potential role of BRD7 in spermatogenic failure in humans. This case-control study aimed to explore the association of the BRD7 gene with spermatogenic efficiency and the risk of spermatogenic defects in humans.ResultsA total of six heterozygous variants were detected in the coding and splicing regions of the BRD7 gene in patients with azoospermia. For each of four rare variants predicted to potentially damage BRD7 function, we further identified these four variants in oligozoospermia and normozoospermia as well. However, no difference in the allele and genotype frequencies of rare variants were observed between cases with spermatogenic failure and controls with normozoospermia; the sperm products of variant carriers were similar to those of noncarriers. Moreover, similar distribution of the alleles, genotypes and haplotypes of seven tag single nucleotide polymorphisms (tagSNPs) was observed between the cases with azoospermia and oligozoospermia and controls with normozoospermia; associations of tagSNP-distinguished BRD7 alleles with sperm products were not identified.ConclusionsThe lack of an association of BRD7-linked rare and common variants with spermatogenic failure implied a limited contribution of the BRD7 gene to spermatogenic efficiency and susceptibility to male infertility in humans.
Highlights
Bromodomain-containing protein 7 (BRD7), a member of the bromodomain-containing protein family, plays important roles in chromatin modification and transcriptional regulation
After excluding one synonymous variant without supporting evidence for its influence on RNA splicing and another with minor allele frequency (MAF) > 1% in the East Asian population of 1000 Genomes and Genome Aggregation Database (gnomAD) databases, the remaining four rare variants (Supplementary Fig. 1), including rs116422109, rs202057136, rs115302634 and rs188183810, were further subjected to genotyping by Sanger sequencing in 173 infertile males with OZ and 995 normozoospermic men
Our results showed a similar distribution of alleles and genotypes of these variants between 995 controls and 315 infertile patients (142 with nonobstructive azoospermia (NOA) and 173 with OZ) (Table 3)
Summary
Bromodomain-containing protein 7 (BRD7), a member of the bromodomain-containing protein family, plays important roles in chromatin modification and transcriptional regulation. A recent model of Brd7knockout mice presented azoospermia and male infertility, implying the potential role of BRD7 in spermatogenic failure in humans. This case-control study aimed to explore the association of the BRD7 gene with spermatogenic efficiency and the risk of spermatogenic defects in humans. BRD7 expression in the testis was reduced significantly in patients with idiopathic AZ relative to men with normozoospermia (NZ) [6] These findings suggest a vital role of the BRD7 gene in spermatogenesis. Our results implied a limited contribution of the BRD7 gene to susceptibility to spermatogenic failure and male infertility in humans
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