title: An anomalous haplotype distribution of the arrestin domain-containing 4 gene (ARRDC4) haplotypes in Caucasians.
abstract: Little was known about the sequence variability of the human Arrestin domain-containing 4 gene (ARRDC4). We sequenced its DNA from exon 2 to exon 8 in a sample of 92 Russians. Seven variants were identified; one of them has not been described yet. It causes an amino acid change from Thr to Met. Identified variants were genotyped in the complete sample of 253 unrelated men and women to analyze haplotype distribution. Fifteen haplotypes were inferred. Nine haplotypes had estimated frequencies > 1%. Ninety-five percent of all haplotypes were determined by five haplotype-tagging single nucleotide polymorphisms. Haplotypes form two clades. The two most common haplotypes cover 76% of all haplotypes. The certainty of the haplotype reconstruction does not depend on the haplotype-inferring algorithms, but is a result of the anomalous haplotype distribution of ARRDC4, which makes this gene a suitable candidate gene for haplotype association studies. Interestingly, there is a great evolutionary distance between the two most common haplotypes, which could suggest a more complicated coalescent process with either past gene flow, selections, or bottlenecks.
authors.affiliation: Institute of Clinical Pharmacology and Toxicology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Bettina
authors.initials: B
authors.lastname: Knoll
authors.forename: Mark
authors.initials: M
authors.lastname: Goldammer
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Wojewoda
authors.forename: Jana
authors.initials: J
authors.lastname: Flügge
authors.forename: Andreas
authors.initials: A
authors.lastname: Johne
authors.forename: Przemyslaw M
authors.initials: PM
authors.lastname: Mrozikiewicz
authors.forename: Ivar
authors.initials: I
authors.lastname: Roots
authors.forename: Karla
authors.initials: K
authors.lastname: Köpke
mesh_terms: D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D019143:Evolution, Molecular; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012426:Russia; D044465:White People / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D017931:DNA Primers; C486715:TXNIP protein, human