Traditionally, DAX1 was considered an 'anti-testis' gene because DAX1 duplications in XY individuals cause male-to-female sex reversal: dosage-sensitive sex reversal (DSS). In DSS, two active DAX1 genes on one X chromosome can abrogate testis formation. By contrast, mutations and deletions of DAX1 cause adrenal hypoplasia congenita (AHC). Although AHC patients develop testes, gonadal defects in...

We first identified genes differentially expressed in rodent testis by comparing total testis, (TT; gonads whose tunica was removed by decapsulation) and isolated seminiferous tubules (TU; lacking the interstitial cells) to enriched populations of Sertoli cells (SE), spermatogonia (SG), pachytene spermatocytes (SC) and round spermatids (ST). Chondrocytes (CC) and vascular smooth muscle (SM) sam...

Disorders of sex development often arise from anomalies in the molecular or cellular networks that guide the differentiation of the embryonic gonad into either a testis or an ovary, two functionally distinct organs. The activation of the Y-linked gene Sry (sex-determining region Y) and its downstream target Sox9 (Sry box-containing gene 9) triggers testis differentiation by stimulating the diff...

Although decades of research have established that androgen is essential for spermatogenesis, androgen's mechanism of action remains elusive. This is in part because only a few androgen-responsive genes have been definitively identified in the testis. Here, we propose that microRNAs--small, non-coding RNAs--are one class of androgen-regulated trans-acting factors in the testis. Specifically, by...

Herein, we performed RNA-seq analysis of ten major tissues/subparts silkworm larvae. The sequences were mapped onto the reference genome assembly and transcriptome data successfully constructed. provided a nearly complete sequence for sericin-1, silk gene with complex structure. We also markedly improved model other genes. transcriptomic expression was investigated in each tissue number transcr...

PIWI pathway proteins are expressed during spermatogenesis where they play a key role in germ cell development. Epigenetic loss of PIWI proteins expression was previously demonstrated in testicular germ cell tumors (TGCTs), implying their involvement in TGCT development. In this work, apart from studying only normal testis and TGCT samples, we also analyzed an intermediate stage, i.e. preneopla...

The discovery that the SRY gene induces male sex in humans and other mammals led to speculation about a possible equivalent for female sex. However, only partial effects have been reported for candidate genes experimentally tested so far. Here we demonstrate that inactivation of two ovarian somatic factors, Wnt4 and Foxl2, produces testis differentiation in XX mice, resulting in the formation o...

Alternative pre-mRNA splicing (AS) is a key molecular event that allows for protein diversity and plays important roles in development and disease. AS regulations during spermatogenesis and AS aetiology in testicular tumorigenesis have not yet to be characterized. By genome-wide analysis, here we describe alternative splicing features that distinguish distinctive patterns of AS among human test...

Evolution appears to be especially rapid during speciation, and the genes involved in speciation should be evident in species such as humans that have recently speciated or are presently in the process of speciation. Haldane's rule is that when one sex is sterile or inviable in interspecific F(1) hybrids, it is usually the heterogametic sex. For mammals, this implicates genes on the X chromosom...

MicroRNAs (miRNAs) are endogenous non-coding small RNAs that can regulate the expression of complementary mRNA targets. Identifying tissue-specific miRNAs is the first step toward understanding the biological functions of miRNAs, which include the regulation of tissue differentiation and the maintenance of tissue identity. In this study, we performed small RNA library sequencing in adult mouse ...