title: Polymorphisms in the Human SNAIL (SNAI1) gene.
abstract: The human SNAIL is an important developmental protein involved in the formation of mesoderm and neural crest. The protein contains three classic and one atypical zinc-finger motif. The SNAI1 gene is composed of three exons. We have identified three SNPs in non-coding regions, two in the 5'UTR and one in intron 1, which can be detected by PCR followed by restriction enzyme digestion. We also identified a GGG/GGGG polymorphism in intron 1. We screened CEPH DNAs for these polymorphisms.
authors.affiliation: Department of Pediatrics, Center for Craniofacial Development and Disorders, and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287-3914, USA.
authors.forename: K
authors.initials: K
authors.lastname: Okajima
authors.forename: W A
authors.initials: WA
authors.lastname: Paznekas
authors.forename: T
authors.initials: T
authors.lastname: Burstyn
authors.forename: E W
authors.initials: EW
authors.lastname: Jabs
mesh_terms: D020121:5' Untranslated Regions; D000483:Alleles; D001483:Base Sequence; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D000071250:Snail Family Transcription Factors; D014157:Transcription Factors / Q000235:genetics*; D016335:Zinc Fingers
chemical_list: D020121:5' Untranslated Regions; D004268:DNA-Binding Proteins; C000604407:SNAI1 protein, human; D000071250:Snail Family Transcription Factors; D014157:Transcription Factors