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A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41.

Publication ,  Journal Article
Schutte, BC; Bjork, BC; Coppage, KB; Malik, MI; Gregory, SG; Scott, DJ; Brentzell, LM; Watanabe, Y; Dixon, MJ; Murray, JC
Published in: Genome Res
January 2000

Van der Woude syndrome (VWS) is a common form of syndromic cleft lip and palate and accounts for approximately 2% of all cleft lip and palate cases. Distinguishing characteristics include cleft lip with or without cleft palate, isolated cleft palate, bilateral lip pits, hypodontia, normal intelligence, and an autosomal-dominant mode of transmission with a high degree of penetrance. Previously, the VWS locus was mapped to a 1.6-cM region in 1q32-q41 between D1S491 and D1S205, and a 4.4-Mb contig of YAC clones of this region was constructed. In the current investigation, gene-based and anonymous STSs were developed from the existing physical map and were then used to construct a contig of sequence-ready bacterial clones across the entire VWS critical region. All STSs and BAC clones were shared with the Sanger Centre, which developed a contig of PAC clones over the same region. A subset of 11 clones from both contigs was selected for high-throughput sequence analysis across the approximately 1.1-Mb region; all but two of these clones have been sequenced completely. Over 900 kb of genomic sequence, including the 350-kb VWS critical region, were analyzed and revealed novel polymorphisms, including an 8-kb deletion/insertion, and revealed 4 known genes, 11 novel genes, 9 putative genes, and 3 psuedogenes. The positional candidates LAMB3, G0S2, HIRF6, and HSD11 were excluded as the VWS gene by mutation analysis. A preliminary gene map for the VWS critical region is as follows: [see text] 41-TEL. The data provided here will help lead to the identification of the VWS gene, and this study provides a model for how laboratories that have a regional interest in the human genome can contribute to the sequencing efforts of the entire human genome.

Duke Scholars

Published In

Genome Res

ISSN

1088-9051

Publication Date

January 2000

Volume

10

Issue

1

Start / End Page

81 / 94

Location

United States

Related Subject Headings

  • Syndrome
  • Rats
  • Polymorphism, Genetic
  • Physical Chromosome Mapping
  • Mice
  • Lip
  • Humans
  • DNA, Bacterial
  • DNA Mutational Analysis
  • Cysts
 

Citation

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Schutte, B. C., Bjork, B. C., Coppage, K. B., Malik, M. I., Gregory, S. G., Scott, D. J., … Murray, J. C. (2000). A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Genome Res, 10(1), 81–94.
Schutte, B. C., B. C. Bjork, K. B. Coppage, M. I. Malik, S. G. Gregory, D. J. Scott, L. M. Brentzell, Y. Watanabe, M. J. Dixon, and J. C. Murray. “A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41.Genome Res 10, no. 1 (January 2000): 81–94.
Schutte BC, Bjork BC, Coppage KB, Malik MI, Gregory SG, Scott DJ, et al. A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Genome Res. 2000 Jan;10(1):81–94.
Schutte BC, Bjork BC, Coppage KB, Malik MI, Gregory SG, Scott DJ, Brentzell LM, Watanabe Y, Dixon MJ, Murray JC. A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Genome Res. 2000 Jan;10(1):81–94.

Published In

Genome Res

ISSN

1088-9051

Publication Date

January 2000

Volume

10

Issue

1

Start / End Page

81 / 94

Location

United States

Related Subject Headings

  • Syndrome
  • Rats
  • Polymorphism, Genetic
  • Physical Chromosome Mapping
  • Mice
  • Lip
  • Humans
  • DNA, Bacterial
  • DNA Mutational Analysis
  • Cysts