抄録
(Object) TA dinucleotide repeat polymorphism is located on 1200 bp upstream regulatory region of transcription start site of estrogen receptor 1 (ESR1 or ERα) gene and a total of 21 alleles (TA)9-29 were observed in human populations. A pair of short allels (< 16 repeats) was associated to early onset osteoporotic bone fractures (Meurs et al., 2003), endometriosis (Hsing et al., 2005) and neuroticism (Comings et al., 1999), whereas a pair of long alleles (> 19 repeats) was associated to coronary artery disease in men (Pollack et al., 2005). To examine the evolution of this repeat, we surveyed the polymorphism in apes.
(Materials and Methods) 56 chimpanzees, 3 bonobos, 18 gorillas, 20 orang-utan and in eight species gibbons: 16 Hylobates agilis, 2 H. concolor, 4 H. klossii, 11 H. lar, 4 H. moloch, 14 H. muelleri, 3 H. pileatus, and 18 H. syndactylus were amplified and some alleles were sequenced.
(Results and Discussion) The human repeat tract was constructed by only (TA)n, whereas the repeat constructions of apes were quite different. Chimpanzees showed two different motifs of the (TA)7-9(CA)4-6 in repeat tract, but gorillas contained the (TA)9-10repeat tracts, however orang-utans was all (TA)7repeats and monomorphic. On the other hands, gibbon sequences include (TA)2 and no TA expansion was observed in the homologous region with humans. Therefore, this region will be a useful marker for study the divergence between lesser and great apes.
