期刊
JOURNAL OF BIOCHEMISTRY
卷 128, 期 5, 页码 847-853出版社
JAPANESE BIOCHEMICAL SOC
DOI: 10.1093/oxfordjournals.jbchem.a022823
关键词
CpG island; imprinted genes; genomic imprinting; KCNQ1DN; Wilms' tumors
WT2 is defined by a maternal-specific loss of heterozygosity on human chromosome 11p15.5 in Wilms' and other embryonal tumors. Therefore, the imprinted genes in this region are candidates for involvement in Wilms' tumorigenesis, We now report a novel imprinted gene, KCNQ1DN (KCNQ1 downstream neighbor), This gene is located between p57(KIP2) and KvLQT1 (KCNQ1) of 11p15.5 within the WT2 critical region. KCNQ1DN is imprinted and expressed from the maternal allele, We examined the expression. of KCNQ1DN in Wilms' tumors. Seven of eighteen. (39%) samples showed no expression. In contrast, other maternal imprinted genes in this region, including p57(KIP2), IMPT1, and IPL exhibited almost normal expression in these samples, although some samples expressed IGF2 biallelically, These results suggest that KCNQ1DN existing far from the H19/IGF2 region, may play some role in. Wilms' tumorigenesis along with IGF2.
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