title: Dynamics of a human interparalog gene conversion hotspot.
abstract: Gene conversion between paralogs can alter their patterns of sequence identity, thus obscuring their evolutionary relationships and affecting their propensity to sponsor genomic rearrangements. The details of this important process are poorly understood in the human genome because allelic diversity complicates the interpretation of interparalog sequence differences. Here we exploit the haploid nature of the Y chromosome, which obviates complicating interallelic processes, together with its known phylogeny, to understand the dynamics of conversion between two directly repeated HERVs flanking the 780-kb AZFa region on Yq. Sequence analysis of a 787-bp segment of each of the HERVs in 36 Y chromosomes revealed one of the highest nucleotide diversities in the human genome, as well as evidence of a complex patchwork of highly directional gene conversion events. The rate of proximal-to-distal conversion events was estimated as 2.4 x 10(-4) to 1.2 x 10(-3) per generation (3.9 x 10(-7) to 1.9 x 10(-6) per base per generation), and the distal-to-proximal rate as about one-twentieth of this. Minimum observed conversion tract lengths ranged from 1 to 158 bp and maximum lengths from 19 to 1365 bp, with an estimated mean of 31 bp. Analysis of great ape homologs shows that conversion in this hotspot has a deep evolutionary history.
authors.affiliation: Department of Genetics, University of Leicester, Leicester LE1 7RH, UK.
authors.forename: Elena
authors.initials: E
authors.lastname: Bosch
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Hurles
authors.forename: Arcadi
authors.initials: A
authors.lastname: Navarro
authors.forename: Mark A
authors.initials: MA
authors.lastname: Jobling
mesh_terms: D000818:Animals; D001483:Base Sequence / Q000235:genetics; D002874:Chromosome Mapping / Q000379:methods; D017124:Conserved Sequence / Q000235:genetics; D004247:DNA / Q000235:genetics; D004279:DNA, Viral / Q000235:genetics; D030541:Databases, Genetic; D020077:Endogenous Retroviruses / Q000235:genetics; D019143:Evolution, Molecular; D005785:Gene Conversion / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics; D006071:Gorilla gorilla / Q000235:genetics; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D002679:Pan troglodytes / Q000235:genetics; D010802:Phylogeny; D011995:Recombination, Genetic / Q000235:genetics; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid; D014998:Y Chromosome / Q000235:genetics / Q000821:virology
chemical_list: D004279:DNA, Viral; D004247:DNA