Mouse TCOF1 Is Expressed Widely, Has Motifs Conserved in Nucleolar Phosphoproteins, and Maps to Chromosome 18

• Published in: Biochemical and biophysical research communications Vol. 238; no. 1; pp. 1 - 6
• Main Authors: Paznekas, William A., Zhang, Nian, Gridley, Thomas, Jabs, Ethylin Wang
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 08.09.1997
• Subjects: Amino Acid Sequence; Animals; Chromosome Mapping; Chromosomes, Human, Pair 18; Cloning, Molecular; Conserved Sequence; DNA, Complementary - isolation & purification; Humans; Mice; Mice, Inbred BALB C; Mice, Inbred C57BL; Molecular Sequence Data; Nuclear Proteins - biosynthesis; Nuclear Proteins - chemistry; Nuclear Proteins - genetics; Organ Specificity; Phosphoproteins - biosynthesis; Phosphoproteins - chemistry; Phosphoproteins - genetics; Polymerase Chain Reaction; Sequence Homology, Amino Acid
• ISSN: 0006-291X; 1090-2104
• DOI: 10.1006/bbrc.1997.7229

Mutations in the humanTCOF1gene have been identified in patients with Treacher Collins syndrome (Mandibulofacial Dysostosis), an autosomal dominant condition affecting the craniofacial region. We report the isolation of the entire mouseTcof1coding sequence (3960 bp) by performing a computer-based search for mouse cDNA clones homologous toTCOF1and generating overlapping RT-PCR products from mouse RNA. Tcof1 is a 1320 amino acid protein of 135 kd with 61.4% identity to TCOF1 and displays repeating motifs enriched for serine- and acidic amino acid-rich regions with potential phosphorylation sites and putative nuclear localization signals.Tcof1maps to the mouse chromosome 18 region syntenic with human chromosome 5q32→q33 which contains theTCOF1locus. Northern blot hybridization indicatesTcof1expression is ubiquitous in adult tissues and in the embryonic stage, is elevated at 11 dpc when the branchial arches and facial swellings are present in mouse. Our results are consistent with TCOF1 mutations leading to the Treacher Collins syndrome phenotype.