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Evidence that insulin is imprinted in the human yolk sac.

Moore, GE; Abu-Amero, SN; Bell, G; Wakeling, EL; Kingsnorth, A; Stanier, P; Jauniaux, E; (2001) Evidence that insulin is imprinted in the human yolk sac. Diabetes , 50 (1) pp. 199-203. 10.2337/diabetes.50.1.199.

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Abstract

Allelic variation in the size of the insulin (INS) variable number tandem repeat (VNTR) correlates with the expression of both INS in the pancreas and thymus and IGF2 (the gene downstream of INS) in the placenta. In addition, the shorter, class I alleles are associated with type 1 diabetes, whereas the longer, class III alleles are associated with type 2 diabetes, polycystic ovary syndrome (PCOS), and size at birth. Parent-of-origin effects have been reported for type 2 diabetes and PCOS, thus implicating a role for genomic imprinting in these phenotypes. In mice, Ins2 is imprinted and paternally expressed in the yolk sac. In humans, evidence for the imprinting of INS is circumstantial, with occasional monoallelic expression in the thymus. In the present study, we found evidence for the imprinted paternal expression of INS in the human yolk sac. Two other imprinted genes from the same cluster are also expressed monoallelically in the human yolk sac. IGF2 was expressed solely from the paternal allele, and H19 was expressed solely from the maternal allele. These data suggest not only further functional roles for the human yolk sac in early fetal growth, but also evidence for a potential causal link between the control of insulin expression during development and insulin/growth-related diseases in later life.

Type: Article
Title: Evidence that insulin is imprinted in the human yolk sac.
Location: United States
DOI: 10.2337/diabetes.50.1.199
Keywords: Alleles, Fathers, Gene Expression, Genomic Imprinting, Humans, Insulin, Insulin-Like Growth Factor II, Mothers, Multigene Family, RNA, Long Noncoding, RNA, Untranslated, Yolk Sac
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Inst for Women's Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Inst for Women's Health > Reproductive Health
URI: http://discovery.ucl.ac.uk/id/eprint/8016
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