Engle L J, Kennett R H
Department of Human Genetics, University of Pennsylvania School of Medicine, Philadelphia 19104.
Genomics. 1994 Feb;19(3):407-16. doi: 10.1006/geno.1994.1088.
The mouse dilute gene encodes a novel type of non-muscle myosin that structurally combines elements from both nonmuscle myosin type I and nonmuscle myosin type II. Phenotypically, mutations in the mouse dilute gene result not only in the lightening of coat color, but also in the onset of severe neurological defects shortly after birth. This may indicate that the mouse dilute gene is important in maintaining the normal neuronal function in the mouse. We report the isolation and sequencing of "myoxin" (MYH12), the human homologue of the mouse dilute gene, and its assignment to human chromosome 15.
小鼠淡化基因编码一种新型非肌肉肌球蛋白，其结构上融合了I型和II型非肌肉肌球蛋白的元素。在表型上，小鼠淡化基因的突变不仅导致毛色变浅，还会在出生后不久引发严重的神经缺陷。这可能表明小鼠淡化基因对维持小鼠正常的神经元功能很重要。我们报告了小鼠淡化基因的人类同源物“肌毒素”（MYH12）的分离和测序，并将其定位到人类15号染色体上。
