Parental genomic imprinting in endocrinopathies.
Genomic imprinting is the phenomenon whereby some genes preferentially produce mRNA transcripts from the gene copy derived from the parent of a specific sex. It has been implicated in a number of human diseases (most of them of endocrine interest), such as Prader-Willi/Angelman syndromes, Silver-Russell syndrome, Beckwith-Wiedemann syndrome, transient neonatal diabetes, the focal form of nesidioblastosis, and pseudohypoparathyroidism. Involvement of imprinted genes affecting birth weight and causing susceptibility to type 1 diabetes is under investigation. Recent knowledge about the varied molecular mechanisms involved will be outlined.
Polychronakos
Constantin
C
Division of Endocrinology, Department of Pediatrics, McGill University, Montreal, Quebec, Canada. constantin.polychronakos@mcgill.ca
Kukuvitis
Asterios
A
D004700:Endocrine System Diseases / Q000235:genetics*; D018392:Genomic Imprinting; D006801:Humans; D007231:Infant, Newborn