title: BMP-1 sublocalization on human chromosome 8. Molecular anatomy and orthopaedic implications.
abstract: Bone morphogenetic proteins are capable of inducing mesenchymal tissue to form mature bone. Bone morphogenetic protein 1 (BMP-1) has a structure unique from the other bone morphogenetic proteins and may be involved in activation of other bone morphogenetic proteins. Localization of the human BMP-1 gene to chromosome 8 led to its consideration as a candidate gene for Langer-Giedion syndrome. Individuals with Langer-Giedion syndrome (also known as trichorhinophalangeal syndrome Type II) exhibit several skeletal abnormalities, including multiple exostoses and cone-shaped epiphyses of the hands and feet. The genetic locus responsible for this disease has been localized to the long arm of human chromosome 8 at 8q24.1. Somatic-cell hybrid and molecular biology techniques were used to sublocalize the BMP-1 gene to the short arm of chromosome 8 within the 8p22-cen region. Although this locus falls outside the Langer-Giedion syndrome region, and therefore excludes BMP-1 as a candidate gene for this disorder, BMP-1 gene sublocalization establishes a chromosomal landmark for evaluating other possible disease associations with BMP-1.
authors.affiliation: Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, USA.
authors.forename: E M
authors.initials: EM
authors.lastname: Shore
authors.forename: A L
authors.initials: AL
authors.lastname: Cook
authors.forename: G V
authors.initials: GV
authors.lastname: Hahn
authors.forename: F S
authors.initials: FS
authors.lastname: Kaplan
authors.forename: J M
authors.initials: JM
authors.lastname: Wozney
authors.forename: M J
authors.initials: MJ
authors.lastname: Wagner
authors.forename: D E
authors.initials: DE
authors.lastname: Wells
mesh_terms: D000818:Animals; D015139:Blotting, Southern; D019485:Bone Morphogenetic Proteins; D002460:Cell Line; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D006224:Cricetinae; D004247:DNA / Q000032:analysis; D006133:Growth Substances / Q000235:genetics*; D006801:Humans; D006822:Hybrid Cells; D015826:Langer-Giedion Syndrome / Q000235:genetics; D009693:Nucleic Acid Hybridization; D011506:Proteins / Q000235:genetics*
chemical_list: D019485:Bone Morphogenetic Proteins; D006133:Growth Substances; D011506:Proteins; D004247:DNA