Gene Encoding the β Subunit of S100 Protein Is on Chromosome 21: Implications for Down Syndrome
- 11 March 1988
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 239 (4845), 1311-1313
- https://doi.org/10.1126/science.2964086
Abstract
S100 protein is a calcium-binding protein found predominantly in the vertebrate nervous system. Genomic and complementary DNA probes were used in conjunction with a panel of rodent-human somatic cell hybrids to assign the gene for the beta subunit of S100 protein to the distal half of the long arm of human chromosome 21. This gene was identified as a candidate sequence which, when expressed in the trisomic state, may underlie the neurologic disturbances in Down syndrome.Keywords
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