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자료유형
학술저널
저자정보
Choi, Bo-Hwa (Department of Anatomy and Institute for Medical Genetics, Keimyung University School Medicine) Lee, In-Hwan (Department of Anatomy and Institute for Medical Genetics, Keimyung University School Medicine) Chun, Hyo-Jin (Department of Clinical Pathology, Keimyung University School of Medicine) Kang, Shin-Sung (Department of Biology, College of Natural Science, Kyungpook National University) Chang, Sung-Ik (Department of Anatomy and Institute for Medical Genetics, Keimyung University School Medicine)
저널정보
대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제2권 제1호
발행연도
1998.1
수록면
41 - 47 (7page)

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Human uniparental gestations such as gynogenetic ovarian teratomas provide a model to evaluate the integrity of parent-specific gene expression - i.e. imprinting - in the absence of a complementary parental genetic contribution. The few imprinted genes characterized so far include the insulin-like growth factor-2 gene (IGF2) coding for a fetal growth factor and H19 gene whose normal function is unknown but it is likely to act as an mRNA. IGF2 is expressed by the paternal allele and H19 by the maternal allele. This reciprocal expression is quite interesting because both H19 and IGF2 genes are located close to each other on chromosome 11p15.5. In situ RNA hybridization analysis has shown variable expression of the H19 and IGF2 alleles according to the tissue origin in 11 teratomas. Especially, Skin, derivative of ectoderm, is expressed conspicuously. We examined imprinting of H19 and IGF2 in teratomas using PCR and RT-PCR of exonic polymorphism. H19 and IGF2 transcript could be expressed either biallelically or monoallelically in the teratomas. Biallelic expression (i.e., loss of imprinting) of IGF2 occurred in 5 out of 6 mature teratomas and 1 out of 1 immature teratoma. Biallelic expression of H19 occurred in 4 out of 10 mature teratomas and 1 out of 1 immature teratoma. Expression levels of H19 and IGF2 transcript using the semi-quantitative RT-PCR had no relation between monoallelic and biallelic expression. Moreover, IGF2 biallelic expression did not affect allele-specificity or levels of H19 expression. These results demonstrate that both genes, H19 and IGF2, can be imprinted, expressed and regulated independently and individually of each other in ovarian teratoma.

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