The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly

descriptionPublicationkeyboard_double_arrow_right Article 01 Jan 2002 English Publisher:S. Karger AGJournal:Cytogenetic and Genome Research, volume 97, pages 62-67 (issn: 1424-8581, eissn: 1424-859X,

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Authors: Karkera, J. D.; Izraeli, S.; Roessler, E.; Dutra, A.; Kirsch, I.; Muenke, M.;

doi: 10.1159/000064057

pmid: 12438740

The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly

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Abstract

Holoprosencephaly (HPE) is the most common congenital malformation of the brain and face in humans. In this study we report the analysis of SIL (SCL interrupting locus) as a candidate gene for HPE. Fluorescent in situ hybridization (FISH) analysis using a BAC 246e16 confirmed the assignment of SIL to 1p32. Computational analysis of SIL at the protein level revealed a 73% overall identity between the human and murine proteins. Denaturing high performance liquid chromatography (dHPLC) techniques were used to screen for mutations and these studies identified several common polymorphisms but no disease-associated mutations, suggesting that SIL is not a common factor in HPE pathogenesis in humans.

Related Organizations

National Institute of Health
Pakistan
National Human Genome Research Institute
United States
National Institutes of Health
United States

Keywords

Base Sequence, Oncogene Proteins, Fusion, Sequence Homology, Amino Acid, DNA Mutational Analysis, Molecular Sequence Data, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Genetic Variation, Proteins, DNA, Exons, Mice, Species Specificity, Holoprosencephaly, Animals, Humans, Amino Acid Sequence, Chromatography, High Pressure Liquid, In Situ Hybridization, Fluorescence

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