Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin.
Studies on mutant human insulin genes: identification and sequence analysis of a gene encoding [SerB24]insulin.
复制标题
突变型人胰岛素基因的研究：编码[SerB24]胰岛素的基因的鉴定和序列分析。
DOI：
10.1073/pnas.80.20.6366
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发表时间：
1983
影响因子：
11.1
通讯作者：
Steiner,DF
中科院分区：
文献类型：
--
作者：
Haneda,M;Chan,SJ;Kwok,SC;Rubenstein,AH;Steiner,DF
Both alleles of the insulin gene of a patient with mild diabetes [maturity-onset-diabetes-of-the-young (MODY)-type syndrome] associated with hyperinsulinemia have been cloned, and the sequences have been determined. One allele contained a mutation (single nucleotide transition) in the coding sequence for the B chain at position 24 (TTC leads to TCC), resulting in the loss of a restriction enzyme (Mbo II) cleavage site in the gene. This mutation results in the substitution of serine for phenylalanine in a critically important region of the insulin molecule that is intimately involved in receptor binding. Both insulin alleles were of the alpha type and, aside from a single nucleotide deletion in the 5' region of the normal allele, their sequences were identical to those previously determined.
