Department of Pediatrics, Stanford University Medical Center, Stanford, CA, USA.
Hum Genet. 2011 Jan;129(1):111-3. doi: 10.1007/s00439-010-0898-0. Epub 2010 Oct 20.
Lactase gene expression declines with aging (lactase non-persistence) in the majority of humans worldwide. Lactase persistence is a heritable autosomal dominant condition and has been strongly correlated with several single nucleotide polymorphisms (SNPs) located ~14-kb upstream (-13907, -13910 and -13915) of the lactase gene in different ethnic populations. In contrast to the -13907G and -13910T SNPs, the -13915G SNP was previously believed not to interact with Oct-1. In the present study, however, Oct-1 is shown to interact with the -13915G SNP region DNA sequence by EMSAs and gel supershift. In addition, Oct-1 is capable of enhancing promoter activity of a lactase promoter-reporter construct harboring the 13915*G SNP sequence in cell culture. Oct-1 binding to the -13907 to -13915 SNP region therefore remains a candidate interaction involved in lactase persistence.
乳糖酶基因的表达随着年龄的增长而下降（乳糖酶非持续性），这在世界上大多数人中都存在。乳糖酶持续性是一种可遗传的常染色体显性遗传状态，与乳糖酶基因上游约 14kb 处（-13907、-13910 和-13915）的几个单核苷酸多态性（SNPs）密切相关，这些 SNPs 存在于不同的种族群体中。与-13907G 和-13910T SNPs 不同，-13915G SNP 之前被认为不会与 Oct-1 相互作用。然而，在本研究中，通过 EMSA 和凝胶超迁移实验表明，Oct-1 与-13915G SNP 区域的 DNA 序列相互作用。此外，Oct-1 能够增强含有 13915*G SNP 序列的乳糖酶启动子-报告基因构建体在细胞培养中的启动子活性。因此，Oct-1 与-13907 到-13915 SNP 区域的结合仍然是乳糖酶持续性相关的候选相互作用之一。
