G protein Gs alpha (GNAS 1), the probable candidate gene for Albright hereditary osteodystrophy, is assigned to human chromosome 20q12-q13.2.
Guanine nucleotide-binding proteins, also known as G proteins, mediate intracellular responses to a wide variety of extracellular stimuli. A variety of genes that specify the synthesis of the components of guanine nucleotide proteins have been identified. One of these proteins, termed Gs alpha (GNAS1), is the G protein component of the olfactory signal transduction cascade. Mutations in the GNAS1 gene leading to Gs alpha protein deficiency are known to be associated with pseudohypoparathyroidism Ia (Albright hereditary osteodystrophy) and certain pituitary tumors with acromegaly. Studies on the human--mouse somatic cell hybrids provisionally assigned this gene to chromosome 20. We have now confirmed this localization on chromosome 20 and regionally assigned the GNAS1 gene to 20q12-q13.2 by in situ hybridization.
Rao
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Institut für Humangenetik, Universität Göttingen, Federal Republic of Germany.
Schnittger
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Hansmann
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D002871:Chromosome Banding; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics*; D019204:GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D011547:Pseudohypoparathyroidism / Q000235:genetics*; D015398:Signal Transduction / Q000235:genetics
D019204:GTP-Binding Proteins