title: The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly.
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 (Sumacr;CL iumacr;nterrupting lumacr;ocus) 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.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
authors.forename: J D
authors.initials: JD
authors.lastname: Karkera
authors.forename: S
authors.initials: S
authors.lastname: Izraeli
authors.forename: E
authors.initials: E
authors.lastname: Roessler
authors.forename: A
authors.initials: A
authors.lastname: Dutra
authors.forename: I
authors.initials: I
authors.lastname: Kirsch
authors.forename: M
authors.initials: M
authors.lastname: Muenke
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D014644:Genetic Variation; D016142:Holoprosencephaly / Q000209:etiology / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D047908:Intracellular Signaling Peptides and Proteins; D051379:Mice; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion; D011506:Proteins / Q000235:genetics*; D017386:Sequence Homology, Amino Acid; D013045:Species Specificity
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015514:Oncogene Proteins, Fusion; D011506:Proteins; C103486:SIL protein, mouse; C071236:STIL protein, human; D004247:DNA