title: The Werner syndrome gene and global sequence variation.
abstract: We have identified a dense set of markers useful in association studies involving the Werner syndrome (WRN) gene. The homozygotic disruption of the WRN gene is the cause of Werner disease. In addition, this gene is likely to be involved in many complex traits, such as aging, or at least some of the traits and diseases related to age. To investigate the genetic variation associated with the WRN gene, a sample of 93 individuals representing all the continents was analyzed by denaturing high-performance liquid chromatography. A systematic survey of all 35 exons and flanking regions identified 58 single-nucleotide polymorphisms, 15 of which fall in the coding region and cause 11 missense mutations. The resulting global nucleotide diversity was 5.226 x 10(-4), with a slight difference between coding and noncoding regions.
authors.affiliation: Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, California 94305, USA. g.passarino@stanford.edu
authors.forename: G
authors.initials: G
authors.lastname: Passarino
authors.forename: P
authors.initials: P
authors.lastname: Shen
authors.forename: J B
authors.initials: JB
authors.lastname: Van Kirk
authors.forename: A A
authors.initials: AA
authors.lastname: Lin
authors.forename: G
authors.initials: G
authors.lastname: De Benedictis
authors.forename: L L
authors.initials: LL
authors.lastname: Cavalli Sforza
authors.forename: P J
authors.initials: PJ
authors.lastname: Oefner
authors.forename: P A
authors.initials: PA
authors.lastname: Underhill
mesh_terms: D000483:Alleles; D000818:Animals; D002851:Chromatography, High Pressure Liquid; D002874:Chromosome Mapping; D005091:Exons; D014644:Genetic Variation; D016678:Genome; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D002679:Pan troglodytes; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D014898:Werner Syndrome / Q000235:genetics*