To investigate the genetic mechanism of albinism in this Dongbei Wapiti,30× whole genome resequencing,bioinformatic analy-sis,and validation were performed on this Dongbei Wapiti.Data screening for SNPs associated with albino pathogenicity genes finally loc-alized five SNPs in this albino wapiti,which were HPS3(c.A1652G),LYST(c.C3338T,c.G3635A,c.C4613T)and TYR(c.C1204T),with a termination mutation on the TYR gene.Homologous protein sequence analysis excluded pathogenicity of the mutated sites on HPS3 and LYST.RT-PCR analysis further confirmed the termination mutation in the TYR gene,and structural prediction analysis of the TYR protein showed that the mutated site was located between the cytoplasmic and transmembrane structural domains of the protein,and that the di-leu-cine motif(EEXXXPLL),which serves as a splice to the lattice bridging protein AP-3,was located in the intramembrane.In summary,the base substitution(c.C1204T)on the TYR gene caused the albinism in this wapiti.This mutation results in the loss of the TYR tail,which contains the double leucine motif and the loss of the transmembrane region,preventing the transfer of TYR protein from the endoplasmic reticulum to the melanosome,and the functional loss of the melanosome leading to albinism.
万方数据
维普
