Genomics. 1991 Sep;11(1):193-8.

Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.

Jabs EW, Li X, Coss CA, Taylor EW, Meyers DA, Weber JL.

Source

Department of Pediatrics, Johns Hopkins Hospital, Baltimore, Maryland 21205.

Abstract

Treacher Collins syndrome is an autosomal dominant disorder of abnormal craniofacial development. Linkage analysis was performed in Treacher Collins families with restriction fragment length or microsatellite polymorphisms associated with eight loci previously mapped to 5q31----qter. Positive lod scores were obtained for four loci, D5S119, D5S207, D5S209, and D5S210, which map to 5q31.3----q33.3. The Treacher Collins syndrome locus was linked closest to locus D5S210, which is associated with microsatellite polymorphisms, with a maximum lod score of 8.65 at theta = 0.02. The Treacher Collins syndrome locus was excluded from locus ADRB2R, which maps to 5q31----q32, and loci D5S22, D5S61, and D5S43, which map to 5q34----qter. There was no evidence for genetic heterogeneity among eight families with variable expression of the condition.

PMID:: 1765376; [PubMed - indexed for MEDLINE]

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Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. [Genomics. 1993]
Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region.
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Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. [Hum Mol Genet. 1992]
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Dixon MJ, Dixon J, Raskova D, Le Beau MM, Williamson R, Klinger K, Landes GM. Hum Mol Genet. 1992 Jul; 1(4):249-53.
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The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R. Am J Hum Genet. 1991 Jul; 49(1):17-22.
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Marszałek B, Wójcicki P, Kobus K, Trzeciak WH. J Appl Genet. 2002; 43(2):223-33.
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Review Treacher Collins syndrome.
Dixon MJ. Hum Mol Genet. 1996; 5 Spec No:1391-6.

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Cited by 10 PubMed Central articles

Cytogenetic and clinical assessment of a family with treacher collins syndrome. [Case Report Med. 2011]
Cytogenetic and clinical assessment of a family with treacher collins syndrome.
Kumar M, Kumar R, Tanwar M, Ghose S, Kaur J, Dada R. Case Report Med. 2011; 2011:708450. Epub 2011 Jun 23.
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. [Proc Natl Acad Sci U S A. 2004]
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.
Valdez BC, Henning D, So RB, Dixon J, Dixon MJ. Proc Natl Acad Sci U S A. 2004 Jul 20; 101(29):10709-14. Epub 2004 Jul 12.
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region. [Proc Natl Acad Sci U S A. 1997]
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M, Jabs EW. Proc Natl Acad Sci U S A. 1997 Apr 1; 94(7):3110-5.

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Genomics. 1991 Sep ;11(1):193-8.

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