BMP5 AND THE MOLECULAR, SKELETAL, AND SOFT-TISSUE ALTERATIONS IN SHORT EAR MICE
BMP5 AND THE MOLECULAR, SKELETAL, AND SOFT-TISSUE ALTERATIONS IN SHORT EAR MICE
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DOI：
10.1006/dbio.1994.1300
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发表时间：
1994-11-01
影响因子：
2.7
通讯作者：
KINGSLEY, DM
中科院分区：
文献类型：
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作者：
KING, JA;MARKER, PC;KINGSLEY, DM
小鼠短耳(Se)基因的突变改变了骨骼结构的形成和修复以及几种软组织的发育。该基因的大部分发育效应都是通过70多年前报道的一种自发突变来研究的。在这里，我们发现这种突变是由一种叫做骨形态发生蛋白5(BMP5)的分泌型信号分子中的无义突变组成的。这种小的序列改变，结合以前报道的易位和缺失突变，提供了强有力的遗传学证据，表明BMP5是Se基因座的正常产物。Bmp5基因的转录本在正常骨骼发育的早期阶段以与形成骨骼元素的形状非常相似的模式表达。该基因还在先前报道的硒动物软组织异常的几个部位表达，包括肺、肝、输尿管、膀胱和肠道。结合遗传、生化和表达数据表明，BMP5是启动特定骨骼元素形成的关键信号，也是几种软组织正常发育所必需的。(C)1994年学术出版社。
Mutations at the mouse short ear (se) locus alter the formation and repair of skeletal structures and the development of several soft tissues. Most of the developmental effects of the gene have been studied using a spontaneous mutation reported over 70 years ago. Here we show that this mutation consists of a nonsense mutation in a secreted signaling molecule called bone morphogenetic protein 5 (BMP5). This small sequence alteration, in combination with previously reported translocation and deletion mutations, provides strong genetic evidence that BMP5 is the normal product of the se locus. Transcripts from the Bmp5 gene are expressed at the earliest stages of normal skeletal development in patterns that closely resemble the shapes of forming skeletal elements. The gene is also expressed at several sites of soft tissue abnormalities previously reported in se animals, including lungs, liver, ureter, bladder, and intestines. The combined genetic, biochemical, and expression data suggest that BMP5 is a key signal used to initiate formation of particular skeletal elements and is required for normal development of several soft tissues as well. (C) 1994 Academic Press, Inc.