Abstract
Otogelin-like protein (encoded by Otogl) was highly structural similar to the gelforming mucin proteins. Although human OTOG mutations have been linked to deafness, the biological function of OTOGL in male germ cell development remains enigmatic. In screening 336 patients with non-obstructive azoospermia (NOA), OTOGL displays the high mutant ratio (13.99 %). Then, we examined the expression of OTOGL in developing mouse testes. Otogl mRNA and protein are continually expressed in postnatal developing testes from postnatal day 0 (P0) testes to P21 testes exhibiting a decreased trend with the age growth. We thus generated a global Otogl knockout mouse (KO) model using the CRISPR/Cas9 technology; however, Otogl KO mice displayed normal development and fertility. Further histological analysis of Otogl knockout mouse testes revealed that all types of spermatogenic cells are present in Otogl KO seminiferous tubules. Together, our study suggested that OTOGL is nonessential for male germ cell development and spermatogenesis.
Highlights
Mucins are high molecular weight glycoproteins produced by many epithelial tissues
We found a high mutation ratio of OTOGLs in the patients with non-obstructive azoospermia (NOA) and Otogl mRNA highly expressed at the early stages of the testis tissues
Mutation analysis showed that 8 missense mutations of OTOGL were identified in 47 cases with NOA (13.99 %) (Table 1), suggesting that OTOGL may be the cause of NOA
Summary
Mucins are high molecular weight glycoproteins produced by many epithelial tissues. These include the membrane-associated mucins and the secreted mucins [1]. Membrane-associated mucins are expressed in various epithelial cells to form the glycocalyx at mucosal surfaces and act as a barrier to protect cells from infections. Secreted mucins serve as an anti-adhesion molecule and contribute to signal transduction. The expression of mucin isoforms has been reported in germ cells. Mucin 1(Muc1) showed the highest expression in mature
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