Split hand foot malformation is associated with a reduced level of Dactylin gene expression

Autor:	D, Basel, A, DePaepe, M W, Kilpatrick, P, Tsipouras
Rok vydání:	2003
Předmět:	Foot Deformities Phenotype F-Box Proteins Gene Expression Humans Muscle Proteins Proteins RNA Messenger Hand Deformities Polymerase Chain Reaction
Zdroj:	Clinical genetics. 64(4)
ISSN:	0009-9163
Popis:	Split hand foot malformation (SHFM) is a congenital limb malformation presenting with a median cleft of the hand and/or foot, syndactyly and polydactyly. SHFM is genetically heterogeneous with four loci mapped to date. Murine Dactylaplasia (Dac) is phenotypically similar, and it has been mapped to a syntenic region of 10q24, where SHFM3 has been localized. Structural alterations of the gene-encoding dactylin, a constituent of the ubiquitinization pathway, leading to reduced levels of transcript have been identified in Dac. Here, we report a significant decrease of Dactylin transcript in several individuals affected by SHFM. This observation supports a central role for dactylin in the pathogenesis of SHFM.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::41c2d9494cd9776e91296587e6478298 https://pubmed.ncbi.nlm.nih.gov/12974740 Zobrazit plný text záznamu Plný text