Eur J Endocrinol
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DOI: 10.1530/eje.0.1470561
European Journal of Endocrinology, Vol 147, Issue 5, 561-569
Copyright © 2002 by European Society of Endocrinology
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Articles

Parental genomic imprinting in endocrinopathies

C Polychronakos and A Kukuvitis

Division of Endocrinology, Department of Pediatrics, McGill University, Montreal, Quebec, Canada. constantin.polychronakos@mcgill.ca

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.


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