title: Concerted evolution of the tandemly repeated genes encoding human U2 snRNA (the RNU2 locus) involves rapid intrachromosomal homogenization and rare interchromosomal gene conversion.
abstract: We have surveyed the tandemly repeated genes encoding U2 snRNA in a diverse panel of humans. We found only two polymorphisms within the U2 repeat unit: a SacI polymorphism (alleles SacI+ or SacI-) and a CT microsatellite polymorphism (alleles CT+ or CT-). Surprisingly, individual U2 tandem arrays are entirely SacI+ or SacI-, and entirely CT+ or CT-, although the SacI and CT alleles can occur in any combination. We also found that polymorphisms in the left and right junction regions flanking the tandem array fall into only two haplotypes (JL+ and JL-, JR+ and JR-). Most surprisingly, JL+ is always associated with JR+, and JL- with JR-. Thus individual U2 arrays do not exchange flanking markers, despite independent assortment and subsequent homogenization of the SacI and CT alleles within the U2 repeat units. We propose that the primary driving force for concerted evolution of the tandem U2 genes is intrachromosomal homogenization; interchromosomal genetic exchanges are much rarer, and reciprocal nonsister chromatid exchange apparently does not occur. Thus concerted evolution of the U2 tandem array occurs in situ along a chromosome lineage, and linkage disequilibrium between sequences flanking the U2 array may persist for long periods of time.
authors.affiliation: Department of Molecular Biophysics and Biochemistry, Yale University School of Medicine, New Haven, CT 06510-8024, USA.
authors.forename: D
authors.initials: D
authors.lastname: Liao
authors.forename: T
authors.initials: T
authors.lastname: Pavelitz
authors.forename: J R
authors.initials: JR
authors.lastname: Kidd
authors.forename: K K
authors.initials: KK
authors.lastname: Kidd
authors.forename: A M
authors.initials: AM
authors.lastname: Weiner
mesh_terms: D000818:Animals; D001483:Base Sequence; D002875:Chromosomes / Q000235:genetics / Q000378:metabolism*; D003001:Cloning, Molecular; D004276:DNA, Satellite / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D019143:Evolution, Molecular; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D011323:Primates / Q000235:genetics; D012342:RNA, Small Nuclear / Q000235:genetics*; D011995:Recombination, Genetic / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D017421:Sequence Analysis
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers; D012342:RNA, Small Nuclear