The molecular basis of the folate-sensitive fragile site FRA11A at 11q13

K Debacker; B Winnepenninckx; C Longman; J Colgan; J Tolmie; R Murray; R van Luijk; S Scheers; D Fitzpatrick; F Kooy

doi:10.1159/000109612

The molecular basis of the folate-sensitive fragile site FRA11A at 11q13

K Debacker, B Winnepenninckx, C Longman, J Colgan, J Tolmie, R Murray, R van Luijk, S Scheers, D Fitzpatrick, F Kooy

Research output: Contribution to journal › Article › peer-review

Abstract

We report on the molecular basis of the rare, folate-sensitive fragile site FRA11A in chromosome band 11q13 in a family with cytogenetic expression. Five individuals express the fragile site and one was mentally retarded. Expansion of a polymorphic CGG-repeat located at the 5' end of the C11orf80 gene causes FRA11A. The CGG-repeat elongation coincides with hypermethylation of the adjacent CpG island and subsequent transcriptional silencing of the C11orf80 gene. This gene has no homology with known genes. A relationship between cytogenetic expression of the fragile site and the mental handicap seems unlikely, as FRA11A was found in a mentally retarded patient as well as in phenotypically normal carriers from the same family. However, incomplete penetrance cannot be entirely excluded.

Original language	English
Pages (from-to)	9-14
Number of pages	6
Journal	Cytogenetic and Genome Research
Volume	119
Issue number	1-2
DOIs	https://doi.org/10.1159/000109612
Publication status	Published - 2007

Keywords

Chromosome Fragile Sites
Chromosomes, Human, Pair 11
Computational Biology
Female
Folic Acid
Gene Expression Regulation
Humans
In Situ Hybridization, Fluorescence
Male
Pedigree
Phenotype

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10.1159/000109612

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title = "The molecular basis of the folate-sensitive fragile site FRA11A at 11q13",

abstract = "We report on the molecular basis of the rare, folate-sensitive fragile site FRA11A in chromosome band 11q13 in a family with cytogenetic expression. Five individuals express the fragile site and one was mentally retarded. Expansion of a polymorphic CGG-repeat located at the 5' end of the C11orf80 gene causes FRA11A. The CGG-repeat elongation coincides with hypermethylation of the adjacent CpG island and subsequent transcriptional silencing of the C11orf80 gene. This gene has no homology with known genes. A relationship between cytogenetic expression of the fragile site and the mental handicap seems unlikely, as FRA11A was found in a mentally retarded patient as well as in phenotypically normal carriers from the same family. However, incomplete penetrance cannot be entirely excluded.",

keywords = "Chromosome Fragile Sites, Chromosomes, Human, Pair 11, Computational Biology, Female, Folic Acid, Gene Expression Regulation, Humans, In Situ Hybridization, Fluorescence, Male, Pedigree, Phenotype",

author = "K Debacker and B Winnepenninckx and C Longman and J Colgan and J Tolmie and R Murray and {van Luijk}, R and S Scheers and D Fitzpatrick and F Kooy",

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doi = "10.1159/000109612",

language = "English",

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journal = "Cytogenetic and Genome Research",

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TY - JOUR

T1 - The molecular basis of the folate-sensitive fragile site FRA11A at 11q13

AU - Debacker, K

AU - Winnepenninckx, B

AU - Longman, C

AU - Colgan, J

AU - Tolmie, J

AU - Murray, R

AU - van Luijk, R

AU - Scheers, S

AU - Fitzpatrick, D

AU - Kooy, F

PY - 2007

Y1 - 2007

N2 - We report on the molecular basis of the rare, folate-sensitive fragile site FRA11A in chromosome band 11q13 in a family with cytogenetic expression. Five individuals express the fragile site and one was mentally retarded. Expansion of a polymorphic CGG-repeat located at the 5' end of the C11orf80 gene causes FRA11A. The CGG-repeat elongation coincides with hypermethylation of the adjacent CpG island and subsequent transcriptional silencing of the C11orf80 gene. This gene has no homology with known genes. A relationship between cytogenetic expression of the fragile site and the mental handicap seems unlikely, as FRA11A was found in a mentally retarded patient as well as in phenotypically normal carriers from the same family. However, incomplete penetrance cannot be entirely excluded.

AB - We report on the molecular basis of the rare, folate-sensitive fragile site FRA11A in chromosome band 11q13 in a family with cytogenetic expression. Five individuals express the fragile site and one was mentally retarded. Expansion of a polymorphic CGG-repeat located at the 5' end of the C11orf80 gene causes FRA11A. The CGG-repeat elongation coincides with hypermethylation of the adjacent CpG island and subsequent transcriptional silencing of the C11orf80 gene. This gene has no homology with known genes. A relationship between cytogenetic expression of the fragile site and the mental handicap seems unlikely, as FRA11A was found in a mentally retarded patient as well as in phenotypically normal carriers from the same family. However, incomplete penetrance cannot be entirely excluded.

KW - Chromosome Fragile Sites

KW - Chromosomes, Human, Pair 11

KW - Computational Biology

KW - Female

KW - Folic Acid

KW - Gene Expression Regulation

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Male

KW - Pedigree

KW - Phenotype

U2 - 10.1159/000109612

DO - 10.1159/000109612

M3 - Article

C2 - 18160775

VL - 119

SP - 9

EP - 14

JO - Cytogenetic and Genome Research

JF - Cytogenetic and Genome Research

SN - 1424-8581

IS - 1-2

ER -

The molecular basis of the folate-sensitive fragile site FRA11A at 11q13

Abstract

Keywords

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