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| TBX1 is responsible for cardiovascular defects in Velo-Cardio-Facial/DiGeorge syndrome |
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| Author(s): Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R |
| Source: CELL Volume: 104 Issue: 4 Pages: 619-629 Published: FEB 23 2001 |
| Times Cited: 331 References: 36 |
| 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Morrow, BE (reprint author), Yeshiva Univ Albert Einstein Coll Med, Dept Mol Genet, 1300 Morris Pk Ave, Bronx, NY 10461 USA |
Addresses:
1. Yeshiva Univ Albert Einstein Coll Med, Dept Mol Genet, Bronx, NY 10461 USA
2. Yeshiva Univ Albert Einstein Coll Med, Dept Cell Biol, Bronx, NY 10461 USA
3. Yeshiva Univ Albert Einstein Coll Med, Dept Pathol, Bronx, NY 10461 USA
4. Univ Penn, Div Cardiovasc, Philadelphia, PA 19104 USA
5. Univ Calif San Diego, Sch Med, Dept Med, La Jolla, CA 92093 USA
6. Univ London, Coll Med, Inst Child Hlth, London, England
7. Massachusetts Gen Hosp, Endocrine Unit, Boston, MA 02114 USA
8. Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA
9. Forschungszentrum Karlsruhe, Inst Genet & Toxikol, D-76133 Karlsruhe, Germany
10. Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med,Dept Otol & Laryngol, HP Mosher Laryngol Res Lab, Boston, MA 02114 USA |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 USA |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: 405VP |
| ISSN: 0092-8674 |
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