青少年的成人起病型糖尿病家系NEUROD1基因突变的筛查与功能解析

张娟, 葛晓旭, 张荣, 蒋伏松, 蒋燕燕, 李鸣, 李甜甜, 刘婵薇, 陈亚婷, 刘丽梅

Screening and functional analysis of mutations in NEUROD1 gene in pedigrees of maturity-onset diabetes of the young

ZHANG Juan, GE Xiaoxu, ZHANG Rong, JIANG Fusong, JIANG Yanyan, LI Ming, LI Tiantian, LIU Chanwei, CHEN Yating, LIU Limei

图2 NEUROD1野生型和Glu59Gln突变体的3D结构模型 Note： A/B. The location of wild type Glu59(A) and mutant Gln59(B) on the global landscape of NEUROD1 protein. C. Interaction of Glu59 with surrounding residues. The side chains of Glu59 formed strong salt bridge bonds with Arg54 and Lys88, and the main chains of Glu59 formed hydrogen bonds with Gly56 and Asp61, respectively. D. Interaction of Gln59 with surrounding amino acids. In the Glu59Gln mutation, the salt-bridge bonds of the side chains of Glu59 were disrupted, while the mutated Gln59 formed a new hydrogen bond with Arg54. Blue dotted lines represent salt bridge bonds formed between amino acids, while green dotted lines represent hydrogen bonds.

Fig 2 3D structural models of wild type and Glu59Gln mutant of NEUROD1 protein