title: ZNF527 GENE rs386809049 ANALYSIS IN POPULATION OF UKRAINE.
abstract: It was shown that some mutations in a number of zinc finger protein (Znf) genes cause intellectual disability (ID). In our study in two affected siblings with ID exome analysis revealed the homozygous coding sequence (cds) indel rs386809049 in the ZNF527 gene. The c.806_808 deletion CAT and insertion TGTGCA (rs386809049) results in substitution of Pro269 and Tyr270 to Leu, Cys and Asn, located in the interdomain region of Zinc finger protein 527. The analyses of site orthologs revealed that Pro269 and Tyr270 amino acid positions are conserved across mammalian species, indicating that there may be an evolutionarily conserved function. To evaluate the ZNF527 gene involvement in intellectual disability pathogenesis analysis of rs386809049 polymorphism in 300 individuals from general population of Ukraine was performed. The following genotypes distribution was detected: CAT/CAT (67.7%), CAT/TGTGCA (31%) and TGTGCA/TGTGCA (1.3%). As far as we know this is the flirt published data on rs386809049 distribution in the populations. The ZNFS27 TGTGCA (polymorphic) allele frequency was 16.8% and CAT(wild type)--83.2% in the general population of Ukraine. Such a high polymorphic allele frequency allows us to suggest that analyzed rs386809049 polymorphism in ZNF527 gene cannot be the major cause of intellectual disability.
authors.forename: R V
authors.initials: RV
authors.lastname: Gulkovskyi
authors.forename: S Y
authors.initials: SY
authors.lastname: Chernushyn
authors.forename: S A
authors.initials: SA
authors.lastname: Kravchenko
authors.forename: L A
authors.initials: LA
authors.lastname: Livshits
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D054643:INDEL Mutation; D008607:Intellectual Disability / Q000235:genetics*; D051741:Kruppel-Like Transcription Factors / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D017434:Protein Structure, Tertiary; D016415:Sequence Alignment; D035781:Siblings; D014455:Ukraine; D016335:Zinc Fingers / Q000235:genetics*
chemical_list: D051741:Kruppel-Like Transcription Factors; C000603544:ZNF527 protein, human