Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
| Autor: | S. R. Phelps, J. Holland, J. Pointon, Angela Barnicoat, H.R. Middleton-Price, Kay E. Davies, L. Campbell, M.E. Pembrey, A. V. Flannery, Ben A. Oostra, Samantha J. L. Knight, Martin Bobrow, Mark C. Hirst, Zoe Christodoulou |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Genetics
X Chromosome Base Sequence Chromosomal fragile site Molecular Sequence Data Gene Amplification Locus (genetics) Chromosome Fragility Biology medicine.disease Methylation General Biochemistry Genetics and Molecular Biology Pedigree Xq28 Fragile X syndrome CpG site Fragile X Syndrome Intellectual Disability medicine Humans Trinucleotide repeat expansion X chromosome Repetitive Sequences Nucleic Acid |
| DOI: | 10.1016/0092-8674(93)90300-f |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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