The University of Southampton
University of Southampton Institutional Repository

Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development

Record type: Article

Congenital melanocytic nevi (CMN) are pigmented birthmarks that affect up to 80% of the skin surface area. The increased frequency of CMN in families of severely affected individuals is suggestive of a predisposing germline genotype. We noted a high prevalence of red hair in affected families, and considered a role for MC1R in this condition. A cohort of 166 CMN subjects underwent pigmentary phenotyping, with MC1R genotyping in 113. Results were compared with a local control group of 60 unrelated children and with 300 UK children without CMN. CMN subjects had higher prevalences of red hair and a red-haired parent than local controls and had a higher rate of compound heterozygosity and homozygosity for MC1R variants. The presence of a V92M or R allele (D84E, R151C, R160W, D294H) was associated with increasing size of the CMN, implying a growth-promoting effect of these alleles. Unexpectedly, the V92M and R151C alleles were also strongly associated with birth weight in the CMN cohort, a finding confirmed in the control group. The effect of germline MC1R genotype on development and severity of CMN led us to investigate potential broader effects on growth, revealing a role for MC1R in normal fetal development.Journal of Investigative Dermatology advance online publication, 10 May 2012; doi:10.1038/jid.2012.95.

Full text not available from this repository.

Citation

Kinsler, Veronica A., Abu-Amero, Sayeda, Budd, Peter, Jackson, Ian J., Ring, Susan M., Northstone, Kate, Atherton, David J., Bulstrode, Neil W., Stanier, Philip, Hennekam, Raoul C., Sebire, Neil J., Moore, Gudrun E. and Healy, Eugene (2012) Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development Journal of Investigative Dermatology, 132, pp. 2026-2032. (doi:10.1038/jid.2012.95). (PMID:22572819).

More information

Published date: 10 May 2012
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 340542
URI: http://eprints.soton.ac.uk/id/eprint/340542
ISSN: 0022-202X
PURE UUID: 1d4c5c36-2acb-4fe3-9ebe-d07cd8b04412

Catalogue record

Date deposited: 25 Jun 2012 13:40
Last modified: 18 Jul 2017 05:43

Export record

Altmetrics

Contributors

Author: Veronica A. Kinsler
Author: Sayeda Abu-Amero
Author: Peter Budd
Author: Ian J. Jackson
Author: Susan M. Ring
Author: Kate Northstone
Author: David J. Atherton
Author: Neil W. Bulstrode
Author: Philip Stanier
Author: Raoul C. Hennekam
Author: Neil J. Sebire
Author: Gudrun E. Moore
Author: Eugene Healy

University divisions


Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×