TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome

Sandra Merscher; Birgit Funke; Jonathan A Epstein; Joerg Heyer; Anne Puech; Min Min Lu; Ramnik J Xavier; Marie B Demay; Robert G Russell; Stephen Factor; Kazuhito Tokooya; Bruno St Jore; Melissa Lopez; Raj K Pandita; Marie Lia; Danaise Carrion; Hui Xu; Hubert Schorle; James B Kobler; Peter Scambler; Anthony Wynshaw-Boris; Arthur I Skoultchi; Bernice E Morrow; Raju Kucherlapati

doi:10.1016/S0092-8674(01)00247-1

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TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome

Journal article

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Peer reviewed

TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome

Sandra Merscher, Birgit Funke, Jonathan A Epstein, Joerg Heyer, Anne Puech, Min Min Lu, Ramnik J Xavier, Marie B Demay, Robert G Russell, Stephen Factor, …

Cell, Vol.104(4), pp.619-629

2001

DOI: https://doi.org/10.1016/S0092-8674(01)00247-1

PMID: 11239417

Abstract

Velo-cardio-facial syndrome (VCFS)/DiGeorge syndrome (DGS) is a human disorder characterized by a number of phenotypic features including cardiovascular defects. Most VCFS/DGS patients are hemizygous for a 1.5–3.0 Mb region of 22q11. To investigate the etiology of this disorder, we used a cre-loxP strategy to generate mice that are hemizygous for a 1.5 Mb deletion corresponding to that on 22q11. These mice exhibit significant perinatal lethality and have conotruncal and parathyroid defects. The conotruncal defects can be partially rescued by a human BAC containing the TBX1 gene. Mice heterozygous for a null mutation in Tbx1 develop conotruncal defects. These results together with the expression patterns of Tbx1 suggest a major role for this gene in the molecular etiology of VCFS/DGS.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.108 Molecular & Cell Biology - Cancer & Development; 1.108.207 Neural Crest
Web Of Science research areas: Biochemistry & Molecular Biology; Cell Biology
ESI research areas: Molecular Biology & Genetics

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Title: TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome
Creators: Sandra Merscher - Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461 USA
Birgit Funke - Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461 USA
Jonathan A Epstein - Cardiovascular Division University of Pennsylvania Philadelphia, PA 19104 USA
Joerg Heyer - Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461 USA
Anne Puech - Department of Cell Biology Albert Einstein College of Medicine 1300 Morris Park Avenue Bronx, NY 10461 USA
Min Min Lu - Cardiovascular Division University of Pennsylvania Philadelphia, PA 19104 USA
Ramnik J Xavier - Department of Molecular Biology Massachusetts General Hospital Boston, MA 02114 USA
Marie B Demay - Endocrine Unit Massachusetts General Hospital Boston, MA 02114 USA
Robert G Russell - Department of Pathology Albert Einstein College of Medicine 1300 Morris Park Avenue Bronx, NY 10461 USA
Stephen Factor - Department of Pathology Albert Einstein College of Medicine 1300 Morris Park Avenue Bronx, NY 10461 USA
Kazuhito Tokooya - Department of Medicine UCSD School of Medicine La Jolla, CA 92093 USA
Bruno St Jore - Department of Cell Biology Albert Einstein College of Medicine 1300 Morris Park Avenue Bronx, NY 10461 USA
Melissa Lopez - Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461 USA
Raj K Pandita - Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461 USA
Marie Lia - Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461 USA
Danaise Carrion - Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461 USA
Hui Xu - Department of Cell Biology Albert Einstein College of Medicine 1300 Morris Park Avenue Bronx, NY 10461 USA
Hubert Schorle - Foschungszentrum Karlsruhe Institut fuer Toxikologie und Genetik Postfach 3640 76133 Karlsruhe Germany
James B Kobler - H. P. Mosher Laryngological Research Laboratory Department of Otology and Laryngology Harvard Medical School Massachusetts Eye and Ear Infirmary 243 Charles Street Boston, MA 02114 USA
Peter Scambler - Institute for Child Health University of London College of Medicine London, United Kingdom
Anthony Wynshaw-Boris - Department of Medicine UCSD School of Medicine La Jolla, CA 92093 USA
Arthur I Skoultchi - Department of Cell Biology Albert Einstein College of Medicine 1300 Morris Park Avenue Bronx, NY 10461 USA
Bernice E Morrow - Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461 USA
Raju Kucherlapati - Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461 USA
Publication Details: Cell, Vol.104(4), pp.619-629
Publisher: Elsevier Inc
Academic Unit: Miller School of Medicine; Peggy and Harold Katz Family Drug Discovery Center
Language: English
Resource Type: Journal article
PMID: 11239417
Record Identifier: 991031600165702976