Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

Stephen W. Scherer, Parvoneh Poorkaj, Hillary Massa, Sylvia Soder, Todd Allen, Mark Nunes, Dorrit Geshuri, Eddy Wong, Elena Belloni, Stephen Little, Luming Zhou, Donna Becker, Juha Kere, Jaakko Ignatius, Norio Niikawa, Yoshimitsu Fukushima, Tomonobu Hasegawa, Jean Weissenbach, Edoardo Boncinelli, Barbara Trask & 2 others Lap Chee Tsui, P. James Evans

Research output: Contribution to journalArticle

111 Citations (Scopus)

Abstract

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-associated chromosomal rearrangements in twelve patients. An SHFD1 critical interval of 1.5 Mb was established by analysis of five patients with deletions. Translocation 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.

Original languageEnglish
Pages (from-to)1345-1354
Number of pages10
JournalHuman Molecular Genetics
Volume3
Issue number8
Publication statusPublished - 1994 Aug
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 7
Chromosomes
Yeast
Chromosome
Locus
Foot
Hand
Genes
Defects
Yeast Artificial Chromosomes
Claw
In Situ Hybridization
Hoof and Claw
Critical region
Interval
Hybrid Cells
Homeobox Genes
Translocation
Fluorescence In Situ Hybridization
Rearrangement

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Scherer, S. W., Poorkaj, P., Massa, H., Soder, S., Allen, T., Nunes, M., ... Evans, P. J. (1994). Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Human Molecular Genetics, 3(8), 1345-1354.

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. / Scherer, Stephen W.; Poorkaj, Parvoneh; Massa, Hillary; Soder, Sylvia; Allen, Todd; Nunes, Mark; Geshuri, Dorrit; Wong, Eddy; Belloni, Elena; Little, Stephen; Zhou, Luming; Becker, Donna; Kere, Juha; Ignatius, Jaakko; Niikawa, Norio; Fukushima, Yoshimitsu; Hasegawa, Tomonobu; Weissenbach, Jean; Boncinelli, Edoardo; Trask, Barbara; Tsui, Lap Chee; Evans, P. James.

In: Human Molecular Genetics, Vol. 3, No. 8, 08.1994, p. 1345-1354.

Research output: Contribution to journalArticle

Scherer, SW, Poorkaj, P, Massa, H, Soder, S, Allen, T, Nunes, M, Geshuri, D, Wong, E, Belloni, E, Little, S, Zhou, L, Becker, D, Kere, J, Ignatius, J, Niikawa, N, Fukushima, Y, Hasegawa, T, Weissenbach, J, Boncinelli, E, Trask, B, Tsui, LC & Evans, PJ 1994, 'Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly', Human Molecular Genetics, vol. 3, no. 8, pp. 1345-1354.
Scherer SW, Poorkaj P, Massa H, Soder S, Allen T, Nunes M et al. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Human Molecular Genetics. 1994 Aug;3(8):1345-1354.
Scherer, Stephen W. ; Poorkaj, Parvoneh ; Massa, Hillary ; Soder, Sylvia ; Allen, Todd ; Nunes, Mark ; Geshuri, Dorrit ; Wong, Eddy ; Belloni, Elena ; Little, Stephen ; Zhou, Luming ; Becker, Donna ; Kere, Juha ; Ignatius, Jaakko ; Niikawa, Norio ; Fukushima, Yoshimitsu ; Hasegawa, Tomonobu ; Weissenbach, Jean ; Boncinelli, Edoardo ; Trask, Barbara ; Tsui, Lap Chee ; Evans, P. James. / Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. In: Human Molecular Genetics. 1994 ; Vol. 3, No. 8. pp. 1345-1354.
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