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| A MUTATION IN THE HOMEODOMAIN OF THE HUMAN MSX2 GENE IN A FAMILY AFFECTED WITH AUTOSOMAL-DOMINANT CRANIOSYNOSTOSIS |
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| Author(s): JABS EW, MULLER U, LI X, MA L, LUO W, HAWORTH IS, KLISAK I, SPARKES R, WARMAN ML, MULLIKEN JB, SNEAD ML, MAXSON R |
| Source: CELL Volume: 75 Issue: 3 Pages: 443-450 Published: NOV 5 1993 |
| Times Cited: 412 References: 38 |
| Abstract: Craniosynostosis, the premature fusion of calvarial sutures, is a common developmental anomaly that causes abnormal skull shape. The locus for one autosomal dominant form of craniosynostosis has been mapped to chromosome 5qter. The human MSX2 gene localizes to chromosome 5, and a polymorphic marker in the MSX2 intron segregates in a kindred with the disorder with no recombination. Moreover, a histidine substitutes for a highly conserved proline at position 7 of the MSX2 homeodomain exclusively in affected members. In the mouse, transcripts of the Msx2 gene are localized to calvarial sutures. These results provide compelling evidence that the mutation causes this craniosynostosis syndrome. |
| Document Type: Article |
| Language: English |
| Reprint Address: JABS, EW (reprint author), JOHNS HOPKINS UNIV, DEPT PEDIAT, CTR MED GENET, BALTIMORE, MD 21287 USA |
Addresses:
1. JUSTUS LIEBIG UNIV, INST HUMANGENET, D-35392 GIESSEN, GERMANY
2. KENNETH R NORRIS CANC HOSP & INST, INST GENET MED, DEPT BIOCHEM & MOLEC BIOL, LOS ANGELES, CA 90033 USA
3. CHILDRENS HOSP MED CTR, DIV PLAST SURG, CTR CRANIOFACIAL, BOSTON, MA 02115 USA
4. CHILDRENS HOSP MED CTR, DIV GENET, BOSTON, MA 02115 USA
5. JOHNS HOPKINS UNIV, DEPT MED, BALTIMORE, MD 21287 USA
6. JOHNS HOPKINS UNIV, DEPT SURG, BALTIMORE, MD USA
7. UNIV SO CALIF, SCH DENT, CTR CRANIOFACIAL MOLEC BIOL, LOS ANGELES, CA 90089 USA
8. UNIV SO CALIF, SCH PHARM, DEPT PHARMACEUT SCI, LOS ANGELES, CA 90089 USA
9. UNIV CALIF LOS ANGELES, DEPT MED, LOS ANGELES, CA 90024 USA |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: MF830 |
| ISSN: 0092-8674 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |