Genomic imprinting relevant to genetic diseases.
Genomic imprinting is a new concept proposed to explain unusual observations in early mammalian development, the occurrence of certain genetic diseases, genetic anticipation or incomplete penetrance, and tumorigenesis. The basic mechanism of the imprinting has remained obscure, although DNA-methylation, chromatin structure, and/or DNA replication may have a role. Genomic imprinting is a biological phenomenon determined by an evolutionally acquired, underlying system that may control harmonious development and growth in mammals. It is also relevant to the occurrence of some genetic disorders in man.
Niikawa
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Department of Human Genetics, Nagasaki University School of Medicine, Japan.
D017204:Angelman Syndrome / Q000235:genetics; D000818:Animals; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics; D002843:Chromatin / Q000502:physiology; D019175:DNA Methylation; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D018392:Genomic Imprinting / Q000235:genetics*; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics; D051379:Mice; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics; D009396:Wilms Tumor / Q000235:genetics
D002843:Chromatin