Treacher Collins syndrome

Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes, respectively. Autosomal recessive TCS3 is caused by mutations in the POLR1C gene. The majority of TCS cases are caused by a mutation in TCOF1 gene which encodes a putative nucleolar phosphoprotein known as treacle. It has suggested that treacle is involved in the production of ribosomal RNA within cells. POLR1C and POLR1D encode subunits present in RNA polymerase I and III. Both of these polymerases are involved in ribosomal RNA transcription.

Ribosomopathy

(TCS1) TCOF1 [HSA:6949] [KO:K14562]
(TCS2) POLR1D [HSA:9533] [KO:K03027]
(TCS3) POLR1C [HSA:51082] [KO:K03020]

PMID:20174677

Freed EF, Bleichert F, Dutca LM, Baserga SJ

When ribosomes go bad: diseases of ribosome biogenesis.

Mol Biosyst 6:481-93 (2010)
DOI:10.1039/b919670f

PMID:19027870

Sakai D, Trainor PA

Treacher Collins syndrome: unmasking the role of Tcof1/treacle.

Int J Biochem Cell Biol 41:1229-32 (2009)
DOI:10.1016/j.biocel.2008.10.026

PMID:15930015

Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC

The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.

Hum Mol Genet 14:2035-43 (2005)
DOI:10.1093/hmg/ddi208

PMID:21131976

Dauwerse JG, Dixon J, Seland S, Ruivenkamp CA, van Haeringen A, Hoefsloot LH, Peters DJ, Boers AC, Daumer-Haas C, Maiwald R, Zweier C, Kerr B, Cobo AM, Toral JF, Hoogeboom AJ, Lohmann DR, Hehr U, Dixon MJ, Breuning MH, Wieczorek D

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

Nat Genet 43:20-2 (2011)
DOI:10.1038/ng.724