Takahara K, Lee S, Wood S, Greenspan D S
Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison 53706, USA.
Genomics. 1995 Sep 1;29(1):9-15. doi: 10.1006/geno.1995.1209.
Bone morphogenetic protein 1 (BMP1) is a putative protease purified from extracts capable of inducing ectopic bone formation. A single mammalian gene apparently encodes alternatively spliced transcripts for BMP1, for a longer protein with a domain structure identical to that of the Drosophila dorsal-ventral patterning gene product tolloid (Tld), and for a third species of low abundance. Here we describe the organization of the 46-kb, 22-exon human BMP1/mTld gene that encodes these forms. Exons corresponding to each of the alternatively spliced transcripts are identified, and comparison with the Drosophila Tld gene reveals alignment of introns at only three positions. The major BMP1/mTld transcription start site is found only 706 bp downstream of the polyadenylation site of the SFTP2 surfactant gene, and a previously reported highly polymorphic CA repeat is found within the BMP1/mTld first intron. These two findings place the BMP1/mTld gene between markers D8S298 and D8S5 on the genetic map.
骨形态发生蛋白1（BMP1）是一种从能够诱导异位骨形成的提取物中纯化得到的假定蛋白酶。一个单一的哺乳动物基因显然编码了BMP1的可变剪接转录本，一种与果蝇背腹模式基因产物类 tolloid（Tld）结构域相同的较长蛋白质，以及第三种低丰度的物种。在这里，我们描述了编码这些形式的46kb、22个外显子的人类BMP1/mTld基因的结构。确定了与每个可变剪接转录本相对应的外显子，与果蝇Tld基因的比较显示内含子仅在三个位置对齐。主要的BMP1/mTld转录起始位点仅在SFTP2表面活性剂基因的聚腺苷酸化位点下游706bp处发现，并且在BMP1/mTld的第一个内含子中发现了先前报道的高度多态性的CA重复序列。这两个发现将BMP1/mTld基因定位在遗传图谱上的标记D8S298和D8S5之间。
