Title :

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

Author(s) :

Basel-Vanagaite, Lina [Auteur]

Smirin-Yosef, Pola [Auteur]
Ariel University Center [AUC]
Essakow, Jenna Lee [Auteur]

Tzur, Shay [Auteur]
University of Haifa [Haifa]
Lagovsky, Irina [Auteur]

Maya, Idit [Auteur]
Pasmanik-Chor, Metsada [Auteur]

Yeheskel, Adva [Auteur]

Konen, Osnat [Auteur]

Orenstein, Naama [Auteur]
Weisz Hubshman, Monika [Auteur]

Drasinover, Valerie [Auteur]
Magal, Nurit [Auteur]
Peretz Amit, Gaby [Auteur]
Zalzstein, Yael [Auteur]
Zeharia, Avraham [Auteur]

Shohat, Mordechai [Auteur]

Straussberg, Rachel [Auteur]

Monte, Didier [Auteur]
Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 [UGSF]
Salmon-Divon, Mali [Auteur]
Behar, Doron M. [Auteur]
University of Haifa [Haifa]

Journal title :

Human Genetics

Abbreviated title :

Hum. Genet.

Volume number :

134

Pages :

577-587

Publication date :

2015-06

ISSN :

1432-1203

English keyword(s) :

Protein Structure, Tertiary
Cell Line
Humans
Child, Preschool
Abnormalities, Multiple
Male
Infant
Syndrome
Homozygote
Animals
Eye Abnormalities
Adolescent
Female
Mediator Complex
Child
Intellectual Disability
RNA Polymerase II
Infant, Newborn

HAL domain(s) :

Chimie/Chimie théorique et/ou physique

English abstract : [en]

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 ...
Show more >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.Show less >

Language :

Anglais

Audience :

Non spécifiée

Administrative institution(s) :

CNRS
Université de Lille

Collections :

• Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576

Research team(s) :

Biologie structurale et intégrative

Submission date :

2020-02-12T15:11:27Z
2021-03-26T09:14:23Z