Variant PNLDC1, Defective piRNA Processing, and Azoospermia
P-element– precipitated wimpy testis (PIWI)–interacting RNAs (piRNAs) are short (21to 35 nucleotides in length) and noncoding and are observed nearly solely in germ cells, in which they adjust aberrant expression of transposable factors and post meiotic gene expression. Critical to the processing of piRNAs is the protein poly(A)- precise RNase-like area containing 1 (PNLDC1), which trims their 3′ ends and, whilst disrupted in mice, reasons azoospermia and male infertility. We carried out exome sequencing on DNA samples from 924 guys who had obtained an analysis of nonobstructive azoospermia. Testicular-biopsysamples have been analyzed through histologic, immunohistochemical hybridization, reverse-transcriptase–quantitative-polymerase-chain- response assay, and small-RNA sequencing Four unrelated guys of Middle Eastern descent who had nonobstructive azoospermia have been discovered to hold mutations in PNLDC1: the primary affected person had a biallelic stop–ad...