Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

Human Genetics
Lina Basel-VanagaiteDoron M Behar

Abstract

Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys) in MED25 as the cause of a syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability in seven patients from four unrelated families, all originating from the same village. The protein encoded by MED25 belongs to Mediator complex or MED complex, which is an evolutionary conserved multi-subunit RNA polymerase II transcriptional regulator complex. The MED25 point mutation is located in the von Willebrand factor type A (MED25 VWA) domain which is responsible for MED25 recruitment into the Mediator complex; co-immunoprecipitation experiment demonstrated that this mutation dramatically impairs MED25 interaction with the Mediator complex in mammalian cells.

References

Mar 1, 1990·Journal of Molecular Graphics·G Vriend
May 5, 1982·Journal of Molecular Biology·J Kyte, R F Doolittle
Apr 1, 1994·Archives of Pediatrics & Adolescent Medicine·L JaberM Shohat
Nov 1, 1995·Proteins·A SaliM Karplus
Jan 30, 2003·Proceedings of the National Academy of Sciences of the United States of America·Thomas Vorup-JensenTimothy A Springer
Dec 6, 2003·The EMBO Journal·Gerhard MittlerMichael Meisterernst
Feb 26, 2004·Proceedings of the National Academy of Sciences of the United States of America·Fajun YangAnders M Näär
May 18, 2005·Trends in Biochemical Sciences·Roger D Kornberg
Jun 28, 2005·Nucleic Acids Research·Lukasz JaroszewskiAdam Godzik
Dec 7, 2006·European Journal of Human Genetics : EJHG·Lina Basel-VanagaiteMordechai Shohat
May 23, 2007·Nucleic Acids Research·Markus Wiederstein, Manfred J Sippl
Oct 13, 2007·Proteins·Pascal BenkertDietmar Schomburg
Aug 12, 2008·Molecular Cell·Cyril EsnaultMichel Werner
Nov 28, 2008·Nucleic Acids Research·Derek WilsonJulian Gough
May 12, 2009·Nucleic Acids Research·Pascal BenkertTorsten Schwede
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Oct 14, 2010·Nature Reviews. Genetics·Sohail Malik, Robert G Roeder
Mar 24, 2011·Nature Communications·Yukio NakamuraHaruhiko Akiyama
May 20, 2011·Nucleic Acids Research·Robert D FinnSean R Eddy
Nov 19, 2011·Nucleic Acids Research·Sarah HunterSiew-Yit Yong
Jan 19, 2013·Molecular Biology and Evolution·Kazutaka Katoh, Daron M Standley
Nov 21, 2013·Nucleic Acids Research·UNKNOWN UniProt Consortium
Nov 30, 2013·Nucleic Acids Research·Robert D FinnMarco Punta

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