MOLECULAR-BASIS OF MOUSE MICROPHTHALMIA (MI) MUTATIONS HELPS EXPLAIN THEIR DEVELOPMENTAL AND PHENOTYPIC CONSEQUENCES
MOLECULAR-BASIS OF MOUSE MICROPHTHALMIA (MI) MUTATIONS HELPS EXPLAIN THEIR DEVELOPMENTAL AND PHENOTYPIC CONSEQUENCES
复制标题
DOI：
10.1038/ng1194-256
复制
发表时间：
1994-11-01
期刊：
影响因子：
30.8
通讯作者：
JENKINS, NA
中科院分区：
文献类型：
--
作者：
STEINGRIMSSON, E;MOORE, KJ;JENKINS, NA
小鼠小眼症（mi）基因突变影响黑素细胞、破骨细胞和肥大细胞等多种细胞类型的发育。最近，在Waardenburg综合征2型（WS2）患者中发现了人mi基因（MITF）突变，这是一种与听力损失和色素紊乱相关的显性遗传综合征。我们已经确定了与8种小鼠mi突变相关的分子缺陷，这些突变在遗传模式和受影响的细胞类型上都不同。这些分子数据，结合广泛的身体的遗传数据积累的小鼠mi，揭示了mi突变的表型和发育的后果，并提供了一个小鼠模型WS2。
Mutations in the mouse microphthalmia (mi) gene affect the development of a number of cell types including melanocytes, osteoclasts and mast cells. Recently, mutations in the human mi gene (MITF) were found in patients with Waardenburg Syndrome type 2 (WS2), a dominantly inherited syndrome associated with hearing loss and pigmentary disturbances. We have characterized the molecular defects associated with eight murine mi mutations, which vary in both their mode of inheritance and in the cell types they affect. These molecular data, combined with the extensive body of genetic data accumulated for murine mi, shed light on the phenotypic and developmental consequences of mi mutations and offer a mouse model for WS2.