TY - JOUR
T1 - Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
AU - W.scherer, Stephen
AU - Poorka, Parvoneh
AU - Massa, Hillary
AU - Soder, Sylvia
AU - Allen, Todd
AU - Nunes, Mark
AU - Geshurl, Dorrit
AU - Wong, Eddy
AU - Bellonl, Elena
AU - Little, Stephen
AU - Zhou, Lumlng
AU - Becker, Donna
AU - Kere, Juha
AU - Ignatius, Jaakko
AU - Nllkawa, Norio
AU - Fukushlma, Yoshlmitsu
AU - Hasegawa, Tomonobu
AU - Weissenbach, Jean
AU - Boncinelli, Edoardo
AU - Trask, Barbara
AU - Tsui, Lap Chee
AU - P.evans, James
N1 - Funding Information:
The work is supported by funds from the Canadian Genome Analysis and Technology Program and the Howard Hughes Medical Institute (International Scholarship to L-C.T). L-C.T. is an MRC Scientist and Sellers Chair of Cystic Fibrosis Research. B.J.T. and H.F.M are supported by D.O.E. gram 93ER61553 and NIH grant HG00256. J.P.E., P.P., M.N., and D.G. are supported by the Lucille P.Markey Molecular Medicine Center at The University of Washington.
PY - 1994/8
Y1 - 1994/8
N2 - Split hand/split foot (ectrodactyly; SHSF) Is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been mapped to 7q21.3 - q22.1; the locus has been designated SHFD1. We have constructed a physical map consisting of overlapping yeast artificial chromosome clones for the entire region. Somatic cell hybrid and fluorescent in situ hybridization analyses were used to define SHSF-assoclated chromosomal rearrangements In twelve patients. An SHFD1 critical Interval of 1.5 Mb was established by analysis of five patients with deletions. Translocatlon or Inversion breakpoints found In six patients were mapped within 700 kb of each other in the critical region. Of note Is that eight of the patients analyzed (67%) are in fact classified as having syndromic ectrodactyly. Thus, these mapping data establish a relationship between simple split hand/split foot and this more complex group of human birth defects. Finally, we have mapped DLX5, a member of the Distal-less homeobox gene family, to the SHFD1 critical interval.
AB - Split hand/split foot (ectrodactyly; SHSF) Is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been mapped to 7q21.3 - q22.1; the locus has been designated SHFD1. We have constructed a physical map consisting of overlapping yeast artificial chromosome clones for the entire region. Somatic cell hybrid and fluorescent in situ hybridization analyses were used to define SHSF-assoclated chromosomal rearrangements In twelve patients. An SHFD1 critical Interval of 1.5 Mb was established by analysis of five patients with deletions. Translocatlon or Inversion breakpoints found In six patients were mapped within 700 kb of each other in the critical region. Of note Is that eight of the patients analyzed (67%) are in fact classified as having syndromic ectrodactyly. Thus, these mapping data establish a relationship between simple split hand/split foot and this more complex group of human birth defects. Finally, we have mapped DLX5, a member of the Distal-less homeobox gene family, to the SHFD1 critical interval.
UR - http://www.scopus.com/inward/record.url?scp=0028110965&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028110965&partnerID=8YFLogxK
U2 - 10.1093/hmg/3.8.1345
DO - 10.1093/hmg/3.8.1345
M3 - Article
C2 - 7987313
AN - SCOPUS:0028110965
SN - 0964-6906
VL - 3
SP - 1345
EP - 1354
JO - Human Molecular Genetics
JF - Human Molecular Genetics
IS - 8
ER -