Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23.
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%.
Sugawara
Hirobumi
H
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.
Harada
Naoki
N
Ida
Tomoko
T
Ishida
Takafumi
T
Ledbetter
David H
DH
Yoshiura
Ko-ichiro
K
Ohta
Tohru
T
Kishino
Tatsuya
T
Niikawa
Norio
N
Matsumoto
Naomichi
N
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*
D018035:Receptors, Odorant