A Preliminary Gene Map for the Van der Woude Syndrome Critical Region Derived from 900 kb of Genomic Sequence at 1q32–q41

Brian C Schutte; Bryan C Bjork; Kevin B Coppage; Margaret I Malik; Simon G Gregory; Deborah J Scott; Luci M Brentzell; Yoriko Watanabe; Michael J Dixon; Jeffrey C Murray

doi:10.1101/gr.10.1.81

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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

Letter/Communication

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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

Brian C Schutte, Bryan C Bjork, Kevin B Coppage, Margaret I Malik, Simon G Gregory, Deborah J Scott, Luci M Brentzell, Yoriko Watanabe, Michael J Dixon and Jeffrey C Murray

Genome research, Vol.10(1), pp.81-94

01/2000

DOI: 10.1101/gr.10.1.81

PMCID: PMC310500

PMID: 10645953

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC310500/View

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Abstract

Letter 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.

Details

Title: Subtitle: A Preliminary Gene Map for the Van der Woude Syndrome Critical Region Derived from 900 kb of Genomic Sequence at 1q32–q41
Creators: Brian C Schutte - Departments of
Bryan C Bjork - Departments of
Kevin B Coppage - Departments of
Margaret I Malik - Departments of
Simon G Gregory - Departments of
Deborah J Scott - Departments of
Luci M Brentzell - Departments of
Yoriko Watanabe - Departments of
Michael J Dixon - Departments of
Jeffrey C Murray - Departments of
Resource Type: Letter/Communication
Publication Details: Genome research, Vol.10(1), pp.81-94
DOI: 10.1101/gr.10.1.81
PMID: 10645953
PMCID: PMC310500
NLM abbreviation: Genome Res
ISSN: 1088-9051
eISSN: 1549-5469
Publisher: Cold Spring Harbor Laboratory Press
Language: English
Date published: 01/2000
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025439002771

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