caa a22 4500 39757553X CHVBK 20180308164855.0 cr unu---uuuuu 161202e199605 xx s 000 0 eng 10.1093/hmg/5.5.571 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.5.571 Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3-Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development [Elektronische Daten] [Michael A. Crackower, Stephen W. Scherer, Johanna M. Rommens, Chi-Chung Hui, Parvoneh Poorkaj, Sylvia Soder, Jan Maarten Cobben, Louanne Hudgins, James P. Evans, Lap-Chee Tsui] Split hand/split foot malformation (SHFM) is a heterogeneous limb developmental disorder, characterized by missing digits and fusion of remaining digits. An autosomal dominant form of this disorder (SHFM1) has been mapped to 7q21.3-q22.1 on the basis of SHFM-associated chromosomal rearrangements. Utilizing a YAC contig across this region, we have defined a critical interval of 1.5 Mb by the analysis of six interstitial deletion patients and mapped the translocation breakpoints of seven ectrodactyly patients within the interval. To delineate the basic molecular defect underlying SHFM, we have searched for candidate genes in a 500 kb region containing five of the translocation breakpoints. Three genes were identified, two genes of the Distal-less (dll) homeobox gene family, DLX5 and DLX6 and a novel gene, which we named DSS1. DSS1 is predicted to encode a highly acidic polypeptide with no significant similarity to any known proteins but 100% amino acid sequence identity with its murine homolog (Dss1). Using RNA in situ hybridization analysis, we detected a tissue-specific expression profile for Dss1 in limb bud, craniofacial primordia and skin. A deficiency in expression of DSS1, DLX5 and/or DLX6 during development may explain the SHFM phenotypes. © 1996 Oxford University Press Crackower Michael A. Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada aut Scherer Stephen W. Department of Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada aut Rommens Johanna M. Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada aut Hui Chi-Chung Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada aut Poorkaj Parvoneh Department of Molecular Biotechnology, University of Washington, Seattle, Washington, USA aut Soder Sylvia Department of Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada aut Cobben Jan Maarten Department of Medical Genetics, University of Groningen, Groningen, The Netherlands aut Hudgins Louanne University School of Medicine and Children's Hospital and Medical Center, Seattle, Washington, USA aut Evans James P. Division of Medical Genetics, Department of Medicine, University of North Carolina, Chapel Hill, USA aut Tsui Lap-Chee Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada aut Human Molecular Genetics Oxford University Press 5/5(1996-05), 571-579 0964-6906 5:5<571 1996 5 hmg https://doi.org/10.1093/hmg/5.5.571 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.5.571 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Crackower Michael A. Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada aut NATIONALLICENCE 700 1- Scherer Stephen W. Department of Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada aut NATIONALLICENCE 700 1- Rommens Johanna M. Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada aut NATIONALLICENCE 700 1- Hui Chi-Chung Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada aut NATIONALLICENCE 700 1- Poorkaj Parvoneh Department of Molecular Biotechnology, University of Washington, Seattle, Washington, USA aut NATIONALLICENCE 700 1- Soder Sylvia Department of Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada aut NATIONALLICENCE 700 1- Cobben Jan Maarten Department of Medical Genetics, University of Groningen, Groningen, The Netherlands aut NATIONALLICENCE 700 1- Hudgins Louanne University School of Medicine and Children's Hospital and Medical Center, Seattle, Washington, USA aut NATIONALLICENCE 700 1- Evans James P. Division of Medical Genetics, Department of Medicine, University of North Carolina, Chapel Hill, USA aut NATIONALLICENCE 700 1- Tsui Lap-Chee Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/5(1996-05), 571-579 0964-6906 5:5<571 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford