GSDMDC家族的基因功能

Researches on Gene Function of GSDMDC Family

GSDMDC家族是近年来发现的一个全新的含有Gasdermin结构域的蛋白超家族,包括DFNA5、DFNA5L、GSDM、GSDML和MLZE五个成员。研究表明GSDMDC家族可能与组织器官发育以及肿瘤,耳聋和脱发等遗传疾病相关,因而具有重要生理功能。其中,对该家族的DFNA5基因研究报道相对较多,它是常染色体显性非综合征性耳聋致病基因之一,并可能与黑色素瘤和乳腺癌相关。但对DFNA5基因在细胞和分子水平作用机制仍不清楚。对Gasdermin结构域的空间结构、特点、相互作用蛋白和生理功能也知之甚少。将来的研究将揭示此家族各成员的确切生理功能及其与疾病相关性。

The GSDMDC family,a novel protein superfamily, includes five members （DFNA5, DFNA5L, GSDM, GSDML and MLZE）, all of them containing a Gasdermin domain. Many studies indicated that the GSDMDC family had many important physiological functions in development, tumorigenesis and genetic disease with deafness and hair loss phenotype. Many studies have focused on the DFNA5 gene because it is one of the disease genes of autosomal domionant non-syndromic hearing impairment and it is also associated with melanoma and breast cancer. But it is still unclear of the molecular mechanism of DFNA5 in the genetic disease and tumorigenesis. And there are also few studies on the spatial structure, interacting proteins and physiological functions of the Gasdermin domain. So there are a lot of works to do for shedding light on the physiological functions and the relevance on genetic disease of the other members of the GSDMDC family.