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| TRINUCLEOTIDE REPEAT AMPLIFICATION AND HYPERMETHYLATION OF A CPG ISLAND IN FRAXE MENTAL-RETARDATION |
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| Author(s): KNIGHT SJL, FLANNERY AV, HIRST MC, CAMPBELL L, CHRISTODOULOU Z, PHELPS SR, POINTON J, MIDDLETONPRICE HR, BARNICOAT A, PEMBREY ME, HOLLAND J, OOSTRA BA, BOBROW M, DAVIES KE |
| Source: CELL Volume: 74 Issue: 1 Pages: 127-134 Published: JUL 16 1993 |
| Times Cited: 440 References: 56 |
| Abstract: We have cloned the fragile site FRAXE and demonstrate that individuals with this fragile site possess amplifications of a GCC repeat adjacent to a CpG island in Xq28 of the human X chromosome. Normal individuals have 6-25 copies of the GCC repeat, whereas mentally retarded, FRAXE-positive individuals have >200 copies and also have methylation at the CpG island. This situation is similar to that seen at the FRAXA locus and is another example in which a trinucleotide repeat expansion is associated with a human genetic disorder. In contrast with the fragile X syndrome, the GCC repeat can expand or contract and is equally unstable when passed through the male or female line. These results also have implications for the understanding of chromosome fragility. |
| Document Type: Article |
| Language: English |
| Reprint Address: KNIGHT, SJL (reprint author), JOHN RADCLIFFE HOSP, INST MOLEC MED, OXFORD OX3 9DU, ENGLAND |
Addresses:
1. INST CHILD HLTH, LONDON WC1N 1EH, ENGLAND
2. UNITED MED & DENT SCH GUYS & ST THOMAS HOSP, DIV MED & MOLEC GENET, LONDON SE1 9RT, ENGLAND
3. ERASMUS UNIV ROTTERDAM, DEPT CLIN GENET, 3000 DR ROTTERDAM, NETHERLANDS |
| Publisher: CELL PRESS, 1050 MASSACHUSETTES AVE, CIRCULATION DEPT, CAMBRIDGE, MA 02138 |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: LN625 |
| ISSN: 0092-8674 |
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