RESUMO
<p><b>OBJECTIVE</b>To study on the expression patterns of proteins associated with cell junctions in the developing mouse testes.</p><p><b>METHOD</b>The expression levels of reproductive related cell lines spermatogonia cell line GC1 spg, spermatocyte cell line GC2 spg, leydig cell line TM3, and sertoli cell line TM4, primary sertoli cells, and 1-6-week mouse testes were analyzed using Western blot.</p><p><b>RESULTS</b>The sertoli cell junction-associated membrane proteins adhesion molecule A, Occludin and Claudin, and the sertoli-germ cell junction-associated membrane proteins junctional adhesion molecule C, Nectin-3, and E-cadherin were stage-specific in the seminiferous tubules in the mouse testes. The adaptor proteins associated with cell juctions zonula occludens-1, zonula occludens-2, Afadin, Β-catenin, and CD2-associated protein were not stage-specific in the seminiferous tubules in the mouse testes.</p><p><b>CONCLUSIONS</b>In the seminiferous tubules in the mouse testes, the membrane proteins associated with cell junctions are stage-specific. However, the expressions of adaptor proteins associated with cell junctions do not obviously change.</p>
Assuntos
Animais , Humanos , Masculino , Camundongos , Proteínas Adaptadoras de Transdução de Sinal , Metabolismo , Proteínas Cdh1 , Metabolismo , Moléculas de Adesão Celular , Metabolismo , Linhagem Celular , Proteínas do Citoesqueleto , Metabolismo , Junções Intercelulares , Metabolismo , Proteínas de Membrana , Metabolismo , Proteínas dos Microfilamentos , Metabolismo , Nectinas , Túbulos Seminíferos , Biologia Celular , Metabolismo , Células de Sertoli , Biologia Celular , Testículo , Biologia Celular , Proteína da Zônula de Oclusão-1 , Metabolismo , Proteína da Zônula de Oclusão-2 , Metabolismo , beta Catenina , MetabolismoRESUMO
<p><b>BACKGROUND</b>There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI), including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI). Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause. This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI.</p><p><b>METHODS</b>To decipher the genetic code of a Chinese family (family 686) with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing. These techniques were done on samples obtained from this family over a period of 10 years.</p><p><b>RESULTS</b>We identified a pathogenic missense mutation, c. 2081G>A (p.G694E), in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL). The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members. In one of the two patients, we confirmed that the compound heterozygosity for p.Y136* and p.G45E in the GJB2 gene may account for the phenotype shown in this patient.</p><p><b>CONCLUSIONS</b>We identified the co-occurrence of two genetic causes in family 686. The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL. It is necessary to combine various genes screening methods, especially for some unconventional cases.</p>