title: Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23.
abstract: To characterize a submicroscopic, common 8p23 polymorphic inversion, we constructed a complete BAC/PAC-based physical map covering the entire 4.7-Mb inversion and its flanking regions. Two low-copy repeats (LCRs), REPD (approximately 1.3 Mb) and REPP (approximately 0.4 Mb), were identified at each of the inversion breakpoints. Comparison of the REPD and REPP sequences revealed that REPD showed high homology to REPP, with complex direct and inverted orientations. REPD and REPP contain six and five olfactory receptor gene-related sequences, respectively. LCRs at 8p23 showed multiple FISH signals from an Old World monkey to the human. Thus, multiplication of the LCR may have occurred at least 21-25 million years ago. We also investigated the frequency of the 4.7-Mb inversion in the general Japanese population and found that the allele frequency for the 8p23 inversion was estimated to be 27%.
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.
authors.forename: Hirobumi
authors.initials: H
authors.lastname: Sugawara
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Tomoko
authors.initials: T
authors.lastname: Ida
authors.forename: Takafumi
authors.initials: T
authors.lastname: Ishida
authors.forename: David H
authors.initials: DH
authors.lastname: Ledbetter
authors.forename: Ko-ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Tohru
authors.initials: T
authors.lastname: Ohta
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Kishino
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D020451:Contig Mapping; D019143:Evolution, Molecular; D005787:Gene Frequency; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007564:Japan; D018035:Receptors, Odorant / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*
chemical_list: D018035:Receptors, Odorant