A novel putative transporter maps to the osteosclerosis (oc) mutation and is not expressed in the oc mutant mouse
A novel putative transporter maps to the osteosclerosis (oc) mutation and is not expressed in the oc mutant mouse
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DOI：
10.1006/geno.1998.5722
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发表时间：
1999-03-15
期刊：
影响因子：
4.4
通讯作者：
Beier, DR
中科院分区：
文献类型：
--
作者：
Brady, KP;Dushkin, H;Beier, DR
成骨细胞（oc）突变纯合子小鼠的表型包括石骨症，各种研究表明，破骨细胞在这些小鼠中存在，但无功能。我们已经确定了一个新的基因，具有同源性的一个家庭的la-跨膜结构域蛋白的运输功能和地图近端小鼠染色体19，在该地区的oc突变已被分配。推定的转运蛋白在正常肾脏中是丰富的，但当使用北方和西方分析测试时，其在oc/oc小鼠的肾脏中的表达显著降低。我们称之为Rot（oc转运蛋白减少）的基因的Southern分析表明，它在oc/oc小鼠中是完整的和未重排的。原位研究表明，Roct在发育中的骨中表达。我们认为，在小鼠中，Roct表达的缺失导致了骨硬化症的表型。(C)北京：科学出版社.
The phenotype of mice homozygous for the osteosclerosis (oc) mutation includes osteopetrosis, and a variety of studies demonstrate that osteoclasts in these mice are present but nonfunctional. We have identified a novel gene that has homology to a family of la-transmembrane domain proteins with transport functions and maps to proximal mouse chromosome 19, in a region to which the oc mutation has been previously assigned. The putative transporter is abundant in normal kidney, but its expression is markedly reduced in kidneys from oc/oc mice when tested using Northern and Western analyses. Southern analysis of this gene, which we call Roct (reduced in oc transporter), demonstrates that it is intact and unrearranged in oc/oc mice. In situ studies show that Roct is expressed in developing bone. We propose that the absence of Roct expression results in an osteopetrosis phenotype in mice. (C) 1999 Academic Press.