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Title: Expression Analysis of Macrodactyly Identifies Pleiotrophin Upregulation
Authors: Kaplan, Adam;Cerrato, Felecia;Lau, Frank;Xia, Fang;Greene, Arin K.;Taghinia, Amir Hosein;Cowan, Chad A.;Labow, Brian Ian
subject: Biology;Computational Biology;Molecular Genetics;Gene Expression;Developmental Biology;Morphogenesis;Limb Development;Genetics;Human Genetics;Genomics;Genome Expression Analysis;Medicine;Surgery;Orthopedic Surgery;Pediatric Surgery;Reconstructive Surgery
Year: 2012
Publisher: Public Library of Science
Description: Macrodactyly is a rare family of congenital disorders characterized by the diffuse enlargement of 1 or more digits. Multiple tissue types within the affected digits are involved, but skeletal patterning and gross morphological features are preserved. Not all tissues are equally involved and there is marked heterogeneity with respect to clinical phenotype. The molecular mechanisms responsible for these growth disturbances offer unique insight into normal limb growth and development, in general. To date, no genes or loci have been implicated in the development of macrodactyly. In this study, we performed the first transcriptional profiling of macrodactyly tissue. We found that pleiotrophin (PTN) was significantly overexpressed across all our macrodactyly samples. The mitogenic functions of PTN correlate closely with the clinical characteristics of macrodactyly. PTN thus represents a promising target for further investigation into the etiology of overgrowth phenotypes.
Standard no: Lau, Frank H., Fang Xia, Adam Kaplan, Felecia Cerrato, Arin K. Greene, Amir Taghinia, Chad A. Cowan, and Brian I. Labow. 2012. Expression analysis of macrodactyly identifies pleiotrophin upregulation. PLoS ONE 7(7): e40423.
Appears in Collections:HMS Scholarly Articles

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