BMP-1 sublocalization on human chromosome 8. Molecular anatomy and orthopaedic implications

Clin Orthop Relat Res. 1995 Feb:(311):199-209.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Blotting, Southern
  • Bone Morphogenetic Proteins
  • Cell Line
  • Chromosome Mapping*
  • Chromosomes, Human, Pair 8*
  • Cricetinae
  • DNA / analysis
  • Growth Substances / genetics*
  • Humans
  • Hybrid Cells
  • Langer-Giedion Syndrome / genetics
  • Nucleic Acid Hybridization
  • Proteins / genetics*

Substances

  • Bone Morphogenetic Proteins
  • Growth Substances
  • Proteins
  • DNA