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Literature DB >> 10079240

Genomic imprinting: implications for human disease.

J G Falls¹, D J Pulford, A A Wylie, R L Jirtle.

Abstract

Genomic imprinting refers to an epigenetic marking of genes that results in monoallelic expression. This parent-of-origin dependent phenomenon is a notable exception to the laws of Mendelian genetics. Imprinted genes are intricately involved in fetal and behavioral development. Consequently, abnormal expression of these genes results in numerous human genetic disorders including carcinogenesis. This paper reviews genomic imprinting and its role in human disease. Additional information about imprinted genes can be found on the Genomic Imprinting Website at http://www.geneimprint.com.

Entities: Disease Species

Mesh：

Year: 1999 PMID： 10079240 PMCID： PMC1866410 DOI： 10.1016/S0002-9440(10)65309-6

Source DB: PubMed Journal: Am J Pathol ISSN： 0002-9440 Impact factor: 4.307

228 in total

1. Loss of imprinting of the insulin-like growth factor II gene in renal cell carcinoma.

Authors: N Nonomura; K Nishimura; T Miki; N Kanno; Y Kojima; M Yokoyama; A Okuyama
Journal: Cancer Res Date: 1997-07-01 Impact factor: 12.701

2. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.

Authors: D H Skuse; R S James; D V Bishop; B Coppin; P Dalton; G Aamodt-Leeper; M Bacarese-Hamilton; C Creswell; R McGurk; P A Jacobs
Journal: Nature Date: 1997-06-12 Impact factor: 49.962

3. The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts.

Authors: M Alders; M Hodges; A K Hadjantonakis; J Postmus; I van Wijk; J Bliek; M de Meulemeester; A Westerveld; F Guillemot; C Oudejans; P Little; M Mannens
Journal: Hum Mol Genet Date: 1997-06 Impact factor: 6.150

4. Relaxation of imprinting of human insulin-like growth factor II gene, IGF2, in sporadic breast carcinomas.

Authors: H K Wu; J A Squire; C G Catzavelos; R Weksberg
Journal: Biochem Biophys Res Commun Date: 1997-06-09 Impact factor: 3.575

5. Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses.

Authors: A M Riesewijk; L Hu; U Schulz; G Tariverdian; P Höglund; J Kere; H H Ropers; V M Kalscheuer
Journal: Genomics Date: 1997-06-01 Impact factor: 5.736

6. A new imprinted gene cloned by a methylation-sensitive genome scanning method.

Authors: I Hatada; T Sugama; T Mukai
Journal: Nucleic Acids Res Date: 1993-12-11 Impact factor: 16.971

7. Human PEG1/MEST, an imprinted gene on chromosome 7.

Authors: S Kobayashi; T Kohda; N Miyoshi; Y Kuroiwa; K Aisaka; O Tsutsumi; T Kaneko-Ishino; F Ishino
Journal: Hum Mol Genet Date: 1997-05 Impact factor: 6.150

8. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

Authors: D Catchpoole; W W Lam; D Valler; I K Temple; J A Joyce; W Reik; P N Schofield; E R Maher
Journal: J Med Genet Date: 1997-05 Impact factor: 6.318

9. The insulin-like growth factor II receptor gene is mutated in genetically unstable cancers of the endometrium, stomach, and colorectum.

Authors: H Ouyang; H O Shiwaku; H Hagiwara; K Miura; T Abe; Y Kato; H Ohtani; K Shiiba; R F Souza; S J Meltzer; A Horii
Journal: Cancer Res Date: 1997-05-15 Impact factor: 12.701

10. Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumour and gigantism.

Authors: O Ogawa; D M Becroft; I M Morison; M R Eccles; J E Skeen; D C Mauger; A E Reeve
Journal: Nat Genet Date: 1993-12 Impact factor: 38.330

100 in total

1. Unequal expression of allelic kainate receptor GluR7 mRNAs in human brains.

Authors: H H Schiffer; G T Swanson; E Masliah; S F Heinemann
Journal: J Neurosci Date: 2000-12-15 Impact factor: 6.167

2. Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation.

Authors: A A Wylie; S K Murphy; T C Orton; R L Jirtle
Journal: Genome Res Date: 2000-11 Impact factor: 9.043

Genomic imprinting: implications for human disease.

1. Loss of imprinting of the insulin-like growth factor II gene in renal cell carcinoma.

2. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.

3. The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts.

4. Relaxation of imprinting of human insulin-like growth factor II gene, IGF2, in sporadic breast carcinomas.

5. Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses.

6. A new imprinted gene cloned by a methylation-sensitive genome scanning method.

7. Human PEG1/MEST, an imprinted gene on chromosome 7.

8. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

9. The insulin-like growth factor II receptor gene is mutated in genetically unstable cancers of the endometrium, stomach, and colorectum.

10. Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumour and gigantism.

1. Unequal expression of allelic kainate receptor GluR7 mRNAs in human brains.

2. Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation.

3. Rare etiology of autosomal recessive disease in a child with noncarrier parents.

4. Likelihood formulation of parent-of-origin effects on segregation analysis, including ascertainment.

5. Paternal monoallelic expression of the paired immunoglobulin-like receptors PIR-A and PIR-B.

6. Genetic variation in imprinted genes is associated with risk of late-onset Alzheimer's disease.

7. Transcriptional activities of the zinc finger protein Zac are differentially controlled by DNA binding.

8. Bayesian mapping of genome-wide epistatic imprinted loci for quantitative traits.

Review 9. Environmental epigenetics and allergic diseases: recent advances.

Review 10. Epigenetic effects of endocrine-disrupting chemicals on female reproduction: an ovarian perspective.