Gene Encoding the β Subunit of S100 Protein Is on Chromosome 21: Implications for Down Syndrome

• DOI: 10.1126/science.2964086
• Publication Date: 2006-10-05T21:21:15Z
• Authors: R. Allore; D. O'Hanlon; R. Price; K. Neilson; H. F. Willard; D. R. Cox; A. Marks; R. J. Dunn
• Keywords: SCN3A; Candidate gene

S100 protein is a calcium-binding found predominantly in the vertebrate nervous system. Genomic and complementary DNA probes were used conjunction with panel of rodent-human somatic cell hybrids to assign gene for β subunit distal half long arm human chromosome 21. This was identified as candidate sequence which, when expressed trisomic state, may underlie neurologic disturbances Down syndrome.