title: Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite.
abstract: Rothmund-Thomson syndrome is a rare autosomal recessive disorder characterized by a widely heterogeneous clinical presentation. Only a subset of clinically diagnosed patients carry RECQL4 gene mutations, probably because of their genetic heterogeneity and/or the complexity of molecular testing. We here describe the polymorphic sites of the RECQL4 gene that detail its genomic structure and may be of interest as modulators of the splicing process and gene expression. We characterized two novel and one already described single-nucleotide polymorphism in the coding region of the RECQL4 gene, which were shown by the exonic splicing enhancer (ESE) score matrix to fall into high-score motifs recognized by serine/arginine-rich proteins. We also describe the genomic structure of a G-C rich minisatellite flanking the 3' splice site of IVS12 in the helicase domain of the RECQL4 gene, which may enhance mutations such as those described at the IVS12 acceptor site. RECQL4 polymorphic sites may be useful for identifying alleles associated with missplicing and, more generally, in cancer-susceptibility association studies.
authors.affiliation: Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti3/5, Italy.
authors.forename: Gaia
authors.initials: G
authors.lastname: Roversi
authors.forename: Alessandro
authors.initials: A
authors.lastname: Beghini
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zambruno
authors.forename: Mauro
authors.initials: M
authors.lastname: Paradisi
authors.forename: Lidia
authors.initials: L
authors.lastname: Larizza
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000483:Alleles; D004265:DNA Helicases / Q000235:genetics*; D004742:Enhancer Elements, Genetic; D005091:Exons / Q000235:genetics; D006801:Humans; D018598:Minisatellite Repeats / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D053484:RecQ Helicases; D011038:Rothmund-Thomson Syndrome / Q000235:genetics
chemical_list: D000251:Adenosine Triphosphatases; C506725:RECQL protein, human; D004265:DNA Helicases; D053484:RecQ Helicases