Polymorphisms in the Human SNAIL (SNAI1) gene.
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.
Okajima
K
K
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.
Paznekas
W A
WA
Burstyn
T
T
Jabs
E W
EW
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
D020121:5' Untranslated Regions; D004268:DNA-Binding Proteins; C000604407:SNAI1 protein, human; D000071250:Snail Family Transcription Factors; D014157:Transcription Factors