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| IDENTIFICATION OF A GENE (FMR-1) CONTAINING A CGG REPEAT COINCIDENT WITH A BREAKPOINT CLUSTER REGION EXHIBITING LENGTH VARIATION IN FRAGILE-X SYNDROME |
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| Author(s): VERKERK AJMH, PIERETTI M, SUTCLIFFE JS, FU YH, KUHL DPA, PIZZUTI A, REINER O, RICHARDS S, VICTORIA MF, ZHANG FP, EUSSEN BE, VANOMMEN GJB, BLONDEN LAJ, RIGGINS GJ, CHASTAIN JL, KUNST CB, GALJAARD H, CASKEY CT, NELSON DL, OOSTRA BA, WARREN ST |
| Source: CELL Volume: 65 Issue: 5 Pages: 905-914 Published: MAY 31 1991 |
| Times Cited: 1,569 References: 40 |
| Abstract: Fragile X syndrome is the most frequent form of inherited mental retardation and is associated with a fragile site at Xq27.3. We identified human YAC clones that span fragile X site-induced translocation breakpoints coincident with the fragile X site. A gene (FMR-1) was identified within a four cosmid contig of YAC DNA that expresses a 4.8 kb message in human brain. Within a 7.4 kb EcoRl genomic fragment, containing FMR-1 exonic sequences distal to a CpG island previously shown to be hypermethylated in fragile X patients, is a fragile X site-induced breakpoint cluster region that exhibits length variation in fragile X chromosomes. This fragment contains a lengthy CGG repeat that is 250 bp distal of the CpG island and maps within a FMR-1 exon. Localization of the brain-expressed FMR-1 gene to this EcoRl fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome. |
| Document Type: Article |
| Language: English |
| Reprint Address: VERKERK, AJMH (reprint author), ERASMUS UNIV, DEPT CLIN GENET, 3000 DR ROTTERDAM, NETHERLANDS |
Addresses:
1. BAYLOR UNIV, HOWARD HUGHES MED INST, CTR HUMAN GENOME, INST MOLEC GENET, HOUSTON, TX 77030 USA
2. EMORY UNIV, SCH MED, DEPT BIOCHEM, ATLANTA, GA 30322 USA
3. EMORY UNIV, SCH MED, DEPT PEDIAT, ATLANTA, GA 30322 USA
4. SYLVIUS LAB, DEPT HUMAN GENET, LEIDEN, NETHERLANDS
5. ERASMUS UNIV, DEPT CELL BIOL, 3000 DR ROTTERDAM, NETHERLANDS |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: FP516 |
| ISSN: 0092-8674 |
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