Homozygous MED25 mutation implicated in ...
Type de document :
Article dans une revue scientifique
PMID :
URL permanente :
Titre :
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome
Auteur(s) :
Basel-Vanagaite, Lina [Auteur]
Tel Aviv University [TAU]
Smirin-Yosef, Pola [Auteur]
Ariel University Center [AUC]
Essakow, Jenna Lee [Auteur]
Tel Aviv University [TAU]
Tzur, Shay [Auteur]
University of Haifa [Haifa]
Lagovsky, Irina [Auteur]
Tel Aviv University [TAU]
Maya, Idit [Auteur]
Pasmanik-Chor, Metsada [Auteur]
Tel Aviv University [TAU]
Yeheskel, Adva [Auteur]
Tel Aviv University [TAU]
Konen, Osnat [Auteur]
Tel Aviv University [TAU]
Orenstein, Naama [Auteur]
Weisz Hubshman, Monika [Auteur]
Tel Aviv University [TAU]
Drasinover, Valerie [Auteur]
Magal, Nurit [Auteur]
Peretz Amit, Gaby [Auteur]
Zalzstein, Yael [Auteur]
Zeharia, Avraham [Auteur]
Tel Aviv University [TAU]
Shohat, Mordechai [Auteur]
Tel Aviv University [TAU]
Straussberg, Rachel [Auteur]
Tel Aviv University [TAU]
Monte, Didier [Auteur]
Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 [UGSF]
Salmon-Divon, Mali [Auteur]
Behar, Doron M. [Auteur]
University of Haifa [Haifa]
Tel Aviv University [TAU]
Smirin-Yosef, Pola [Auteur]
Ariel University Center [AUC]
Essakow, Jenna Lee [Auteur]
Tel Aviv University [TAU]
Tzur, Shay [Auteur]
University of Haifa [Haifa]
Lagovsky, Irina [Auteur]
Tel Aviv University [TAU]
Maya, Idit [Auteur]
Pasmanik-Chor, Metsada [Auteur]
Tel Aviv University [TAU]
Yeheskel, Adva [Auteur]
Tel Aviv University [TAU]
Konen, Osnat [Auteur]
Tel Aviv University [TAU]
Orenstein, Naama [Auteur]
Weisz Hubshman, Monika [Auteur]
Tel Aviv University [TAU]
Drasinover, Valerie [Auteur]
Magal, Nurit [Auteur]
Peretz Amit, Gaby [Auteur]
Zalzstein, Yael [Auteur]
Zeharia, Avraham [Auteur]
Tel Aviv University [TAU]
Shohat, Mordechai [Auteur]
Tel Aviv University [TAU]
Straussberg, Rachel [Auteur]
Tel Aviv University [TAU]
Monte, Didier [Auteur]
Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 [UGSF]
Salmon-Divon, Mali [Auteur]
Behar, Doron M. [Auteur]
University of Haifa [Haifa]
Titre de la revue :
Human Genetics
Nom court de la revue :
Hum. Genet.
Numéro :
134
Pagination :
577-587
Date de publication :
2015-06
ISSN :
1432-1203
Mot(s)-clé(s) en anglais :
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
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
Discipline(s) HAL :
Chimie/Chimie théorique et/ou physique
Résumé en anglais : [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 ...
Lire la suite >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.Lire moins >
Lire la suite >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.Lire moins >
Langue :
Anglais
Audience :
Non spécifiée
Établissement(s) :
CNRS
Université de Lille
Université de Lille
Équipe(s) de recherche :
Biologie structurale et intégrative
Date de dépôt :
2020-02-12T15:11:27Z
2021-03-26T09:14:23Z
2021-03-26T09:14:23Z