Rao V V, Löffler C, Wozney J M, Hansmann I
Institut für Humangenetik der Universität, Göttingen, Federal Republic of Germany.
Hum Genet. 1992 Nov;90(3):299-302. doi: 10.1007/BF00220084.
Bone morphogenetic protein 2A (BMP2A), a member of the decapentaplegic-Vg-related family, belongs to the transforming growth factor beta superfamily and has a striking sequence similarity to the decapentaplegic locus in Drosophila melanogaster, a major determinant of pattern specification during embryogenesis. BMP2A is thought to be involved in cartilage and bone formation during embryogenesis, but may have additional functions in morphogenesis as implied by its expression in various organs and embryonic tissues of mice. Human BMP2A, assigned to chromosome 20 by the use of human-Chinese hamster ovary cell hybrids, is considered to be a reasonable candidate gene for the autosomal dominant disease of fibrodysplasia (myositis) ossificans progressiva. We have confirmed the localization of BMP2A to chromosome 20 and regionally assigned the locus to 20p12 by radioactive and nonradioactive in situ hybridization.
骨形态发生蛋白2A(BMP2A)是与果蝇“截瘫-Vg”相关家族的成员,属于转化生长因子β超家族,与黑腹果蝇的截瘫基因座具有显著的序列相似性,截瘫基因座是胚胎发育过程中模式形成的主要决定因素。BMP2A被认为在胚胎发育过程中参与软骨和骨的形成,但根据其在小鼠各种器官和胚胎组织中的表达情况,可能在形态发生中具有其他功能。通过人-中国仓鼠卵巢细胞杂种将人类BMP2A定位于20号染色体,它被认为是进行性骨化性纤维发育不良(肌炎)这种常染色体显性疾病的一个合理候选基因。我们已经通过放射性和非放射性原位杂交证实了BMP2A定位于20号染色体,并将该基因座区域定位到20p12。