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Publication : Enhanced Edar signalling has pleiotropic effects on craniofacial and cutaneous glands.

First Author  Chang SH Year  2009
Journal  PLoS One Volume  4
Issue  10 Pages  e7591
PubMed ID  19855838 Mgi Jnum  J:154037
Mgi Id  MGI:4367131 Doi  10.1371/journal.pone.0007591
Citation  Chang SH, et al. (2009) Enhanced Edar signalling has pleiotropic effects on craniofacial and cutaneous glands. PLoS One 4(10):e7591
abstractText  The skin carries a number of appendages, including hair follicles and a range of glands, which develop under the influence of EDAR signalling. A gain of function allele of EDAR is found at high frequency in human populations of East Asia, with genetic evidence suggesting recent positive selection at this locus. The derived EDAR allele, estimated to have reached fixation more than 10,000 years ago, causes thickening of hair fibres, but the full spectrum of phenotypic changes induced by this allele is unknown. We have examined the changes in glandular structure caused by elevation of Edar signalling in a transgenic mouse model. We find that sebaceous and Meibomian glands are enlarged and that salivary and mammary glands are more elaborately branched with increased Edar activity, while the morphology of eccrine sweat and tracheal submucosal glands appears to be unaffected. Similar changes to gland sizes and structures may occur in human populations carrying the derived East Asian EDAR allele. As this allele attained high frequency in an environment that was notably cold and dry, increased glandular secretions could represent a trait that was positively selected to achieve increased lubrication and reduced evaporation from exposed facial structures and upper airways.
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