RGD Reference Report - TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. - Rat Genome Database

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TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.

Authors: Wise, CA  Chiang, LC  Paznekas, WA  Sharma, M  Musy, MM  Ashley, JA  Lovett, M  Jabs, EW 
Citation: Wise CA, etal., Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3110-5.
RGD ID: 1599379
Pubmed: PMID:9096354   (View Abstract at PubMed)
PMCID: PMC20330   (View Article at PubMed Central)

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 trafficking proteins in other species and are predicted to be highly phosphorylated by casein kinase. Consistent with this, the full-length TCOF1 protein sequence also contains putative nuclear and nucleolar localization signals. Throughout the open reading frame, we detected an additional eight mutations in TCS families and several polymorphisms. We postulate that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Treacher Collins syndrome  IAGP 1599379 RGD 
Treacher Collins syndrome  ISOTCOF1 (Homo sapiens)1599379; 1599379 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tcof1  (treacle ribosome biogenesis factor 1)

Genes (Mus musculus)
Tcof1  (treacle ribosome biogenesis factor 1)

Genes (Homo sapiens)
TCOF1  (treacle ribosome biogenesis factor 1)


Additional Information