人和非洲象AXIN1基因的鉴定与生物信息学分析

Identification and Bioinformatics Analysis of AXIN1 Gene in Homo sapiens and Loxodonta africana

隐睾是男性生殖器最常见的先天性异常之一.正常状态下,人(Homo sapiens)在出生时睾丸就已经下降到阴囊,而非洲象(Loxodonta africana)的睾丸始终位于腹腔内却能维持正常的生殖.本文通过克隆测序鉴定了隐睾症相关的基因AXIN1在人和非洲象两个物种中的差异,并对其结构和理化性质进行生物信息学分析.结果表明,与人相比,AXIN1基因在非洲象中缺失第9个外显子(108 bp);二者在理化性质、信号肽、跨膜区域、磷酸化位点、亚定位信息和结构域等方面没有显著性差异,但是在核心启动子、蛋白互作、二级结构和三维结构等方面存在差异.本研究初步证明非洲象AXIN1基因第9个外显子的缺失引起蛋白质性质发生了一些重要变化,为今后探讨这些改变是否和睾丸位置相关奠定了基础.

Cryptorchidism is one of the most common congenital abnormalities of the male genitalia.Under normal conditions,a man’s testis have dropped to the scrotum at birth,while the testes of the Loxodonta africana are always in the abdominal cavity and they can reproduce normally.In this paper,we have identified the differences of cryptorchidism-related gene AXIN1 between Homo sapiens and Loxodonta africana through cloning and sequencing,and conducted bioinformatics analysis on its structure and physical and chemical properties.The results show that,compared with Homo sapiens,the AXIN1 gene lacks the 9th exon(108 bp)in Loxodonta africana;the physical and chemical properties,signal peptide,transmembrane region,phosphorylation site,sub-localization and structural domain information of the AXIN1 gene in the two species are not significant difference;but there are differences in core promoter,protein interaction,secondary structure and three-dimensional structure.This study preliminarily proves that the deletion of the 9th exon of the AXIN1 gene of Loxodonta africana has caused some important changes in protein properties,which lays the foundation for future exploration of whether these changes are related to the location of the testis.