PMID- 10645953
OWN - NLM
STAT- MEDLINE
DCOM- 20000324
LR  - 20181223
IS  - 1088-9051 (Print)
IS  - 1088-9051 (Linking)
VI  - 10
IP  - 1
DP  - 2000 Jan
TI  - A preliminary gene map for the Van der Woude syndrome critical region derived
      from 900 kb of genomic sequence at 1q32-q41.
PG  - 81-94
AB  - 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.
FAU - Schutte, B C
AU  - Schutte BC
AD  - Department of Pediatrics, University of Iowa, Iowa City, Iowa 52242 USA.
FAU - Bjork, B C
AU  - Bjork BC
FAU - Coppage, K B
AU  - Coppage KB
FAU - Malik, M I
AU  - Malik MI
FAU - Gregory, S G
AU  - Gregory SG
FAU - Scott, D J
AU  - Scott DJ
FAU - Brentzell, L M
AU  - Brentzell LM
FAU - Watanabe, Y
AU  - Watanabe Y
FAU - Dixon, M J
AU  - Dixon MJ
FAU - Murray, J C
AU  - Murray JC
LA  - eng
SI  - GENBANK/AL022397
SI  - GENBANK/AL022398
SI  - GENBANK/AL022399
SI  - GENBANK/AL022728
SI  - GENBANK/AL023754
SI  - GENBANK/AL031316
SI  - GENBANK/AL034351
SI  - GENBANK/AL035046
SI  - GENBANK/AL035408
SI  - GENBANK/AL035414
GR  - R01-DE08559/DE/NIDCR NIH HHS/United States
GR  - K12 HD027748/HD/NICHD NIH HHS/United States
GR  - P60-DE13076/DE/NIDCR NIH HHS/United States
GR  - P50-DE09170/DE/NIDCR NIH HHS/United States
GR  - R01 DE008559/DE/NIDCR NIH HHS/United States
GR  - P60 DE013076/DE/NIDCR NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genome Res
JT  - Genome research
JID - 9518021
RN  - 0 (DNA, Bacterial)
SB  - IM
MH  - Animals
MH  - Chromosome Mapping
MH  - Chromosomes, Bacterial/genetics
MH  - Chromosomes, Human, Pair 1/*genetics
MH  - Cleft Lip/*genetics/pathology
MH  - Cleft Palate/*genetics
MH  - Contig Mapping
MH  - Cysts/*genetics
MH  - DNA Mutational Analysis
MH  - DNA, Bacterial/genetics
MH  - Humans
MH  - *Lip
MH  - Mice
MH  - Physical Chromosome Mapping
MH  - Polymorphism, Genetic/*genetics
MH  - Rats
MH  - Syndrome
PMC - PMC310500
EDAT- 2000/01/25 09:00
MHDA- 2000/04/01 09:00
CRDT- 2000/01/25 09:00
PHST- 2000/01/25 09:00 [pubmed]
PHST- 2000/04/01 09:00 [medline]
PHST- 2000/01/25 09:00 [entrez]
PST - ppublish
SO  - Genome Res. 2000 Jan;10(1):81-94.