Em. Shore et al., BMP-1 SUBLOCALIZATION ON HUMAN-CHROMOSOME-8 - MOLECULAR ANATOMY AND ORTHOPEDIC IMPLICATIONS, Clinical orthopaedics and related research, (311), 1995, pp. 199-209
Bone morphogenetic proteins are capable of inducing mesenchymal tissue
to form mature bone. Bone morphogenetic protein 1 (BMP-1) has a struc
ture unique from the other bone morphogenetic proteins and may be invo
lved 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-Gi
edion syndrome (also known as trichorhinophalangeal syndrome Type II)
exhibit several skeletal abnormalities, including multiple exostoses a
nd cone-shaped epiphyses of the hands and feet. The genetic locus resp
onsible for this disease has been localized to the long arm of human c
hromosome 8 at 8q24.1. Somatic-cell hybrid and molecular biology techn
iques were used to sublocalize the BMP-1 gene to the short arm of chro
mosome 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 establis
hes a chromosomal landmark for evaluating other possible disease assoc
iations with BMP-1.