Ontology highlight
ABSTRACT:
SUBMITTER: Wise CA
PROVIDER: S-EPMC20330 | biostudies-literature | 1997 Apr
REPOSITORIES: biostudies-literature
Wise C A CA Chiang L C LC Paznekas W A WA Sharma M M Musy M M MM Ashley J A JA Lovett M M Jabs E W EW
Proceedings of the National Academy of Sciences of the United States of America 19970401 7
Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families. Here we present the entire exon/intron genomic structure and the complete coding sequence of TCOF1. TCOF1 encodes a low complexity protein of 1,411 amino acids, whose predicted protein structure reveals repeated motifs that mirror the organization of its exons. These motifs are shared with nucleolar tra ...[more]