The gene for bone morphogenetic protein 2A (BMP2A) is localized to human chromosome 20pl2 by radioactive and nonradioactive in situ hybridization

Abstract

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.

Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13

“…Other candidates are the bone morphogenetic protein (BMP)-2 and -4 genes, which are expressed in and around chondrogenic regions and functions in the molding of bones of limb elements such as digits. The reported chromosomal locations of HoxD gene [Boncinelli et al, 1988] and BMP-2 gene [Rao et al, 1992] are different from the breakpoints (2p23.3 and 14q13) involved in the translocation of our patient. The BMP-4 gene is recently reported to be mapped on chromosome 14q22-q23 [Tabaset al, 1993;Van den Wijngaard et al, 1995].…”

Linkage between stature and a region on chromosome 20 and analysis of a candidate gene, bone morphogenetic protein 2

“…This exon encodes the 114 amino acids of the mature protein in addition to 169 amino acids of the preprotein [Rao et al, 1992;Wozney et al, 19881. Single-stranded conformational polymorphism (SSCP) analysis was carried out on MaeIII-digested exon 3 PCR-amplified products using four different sets of electrophoresis conditions.…”

Molecular structure and chromosomal mapping of the human homolog of the agouti gene.

“…For regional mapping of the human agouti gene, the 17-kb genomic probe h2OB1 was labeled with biotin-16-dUTP (Boehringer Mannheim) by nick translation. Labeling, hybridization, and signal detection was done as described (26,27). The Comparison ofthe mouse and human regions indicates that the ORF sequences are 85% identical at the nucleotide sequence level (Fig.…”