A novel imprinted gene, KCNQ1DN, within the WT2 critical region of human chromosome 11p15.5 and its reduced expression in 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.
Xin
Z
Z
Department of Biochemistry, Saga Medical School, Nabeshima, Saga, Saga 849-8501, Japan.
Soejima
H
H
Higashimoto
K
K
Yatsuki
H
H
Zhu
X
X
Satoh
Y
Y
Masaki
Z
Z
Kaneko
Y
Y
Jinno
Y
Y
Fukuzawa
R
R
Hata
J i
Ji
Mukai
T
T
D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D015723:Gene Library; D018392:Genomic Imprinting; D006801:Humans; D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; D019656:Loss of Heterozygosity; D008297:Male; D008969:Molecular Sequence Data; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D013737:Testis / Q000737:chemistry; D009396:Wilms Tumor / Q000235:genetics*
D051656:KCNQ Potassium Channels; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated