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Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus

Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus
Transient neonatal diabetes mellitus (TNDM) is a rare disease believed to result from overexpression of a paternally expressed gene controlled by a differentially methylated CpG island on chromosome 6q24. Two genes partially overlap the island: the cell-cycle-control gene ZAC and the untranslated gene HYMAI, the function of which is currently unknown. Proof that either gene is involved in TNDM would require demonstration that imprinted expression is relaxed in TNDM patients; this has hitherto been lacking because of the rarity of the disease and the lack of imprinted expression in the lymphoblastoid cells that are generally the only resource available for study. Here, we show, for the first time, the aberrant expression of imprinted genes in a TNDM patient. In TNDM fibroblasts, the monoallelic expression of both ZAC and HYMAI is relaxed, providing strong supportive evidence that the presence of two unmethylated alleles of this locus is indeed associated with the inappropriate gene expression of neighbouring genes.
0340-6717
139-144
Mackay, D.J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Coupe, A.M.
5d3698b3-f41e-4beb-9973-1e293699b4de
Shield, J.P.H.
7e45e9e5-0a51-4086-87dc-8d4e2da7e5c8
Storr, J.N.P.
bae531aa-d71a-4b28-a520-9446552eeb7c
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Robinson, D.O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a
Mackay, D.J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Coupe, A.M.
5d3698b3-f41e-4beb-9973-1e293699b4de
Shield, J.P.H.
7e45e9e5-0a51-4086-87dc-8d4e2da7e5c8
Storr, J.N.P.
bae531aa-d71a-4b28-a520-9446552eeb7c
Temple, I.K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Robinson, D.O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a

Mackay, D.J.G., Coupe, A.M., Shield, J.P.H., Storr, J.N.P., Temple, I.K. and Robinson, D.O. (2002) Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Human Genetics, 110 (2), 139-144. (doi:10.1007/s00439-001-0671-5).

Record type: Article

Abstract

Transient neonatal diabetes mellitus (TNDM) is a rare disease believed to result from overexpression of a paternally expressed gene controlled by a differentially methylated CpG island on chromosome 6q24. Two genes partially overlap the island: the cell-cycle-control gene ZAC and the untranslated gene HYMAI, the function of which is currently unknown. Proof that either gene is involved in TNDM would require demonstration that imprinted expression is relaxed in TNDM patients; this has hitherto been lacking because of the rarity of the disease and the lack of imprinted expression in the lymphoblastoid cells that are generally the only resource available for study. Here, we show, for the first time, the aberrant expression of imprinted genes in a TNDM patient. In TNDM fibroblasts, the monoallelic expression of both ZAC and HYMAI is relaxed, providing strong supportive evidence that the presence of two unmethylated alleles of this locus is indeed associated with the inappropriate gene expression of neighbouring genes.

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Published date: 2002

Identifiers

Local EPrints ID: 24844
URI: http://eprints.soton.ac.uk/id/eprint/24844
ISSN: 0340-6717
PURE UUID: ef93cdcc-b1b3-4d84-9195-bd4ee513a32b
ORCID for D.J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for I.K. Temple: ORCID iD orcid.org/0000-0002-6045-1781

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Date deposited: 05 Apr 2006
Last modified: 17 Dec 2019 01:54

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Contributors

Author: D.J.G. Mackay ORCID iD
Author: A.M. Coupe
Author: J.P.H. Shield
Author: J.N.P. Storr
Author: I.K. Temple ORCID iD
Author: D.O. Robinson

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