Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

Sarafidou, Theologia; Kahl, Christina; Martínez-Garay, Isabel; Mangelsdorf, Marie; Gesk, Stefan; Baker, Elizabeth; Kokkinaki, Maria; Talley, Polly; Maltby, E L; French, Lisa; Harder, Lana; Hinzmann, Bernd; Nobile, Carlo; Richkind, Kathleen E.; Finnis, Merran; Deloukas, Panos; Sutherland, Grant R.; Kutsche, Kerstin; Moschonas, Nicholas Κ.; Siebert, Reiner; Gécz, Jozef

doi:10.1016/j.ygeno.2003.12.017

Cited by 65 publications

(67 citation statements)

References 39 publications

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“…The most significant marker ESTNV_22894_922, assigned to Ssa28, is located in a novel gene called FRA10AC1. This gene is found within the rare FRA10A folate-sensitive fragile site, and even though its function remains unknown, it is known that in humans the 5' UTR of this gene is part of a CpG island that contains a tandem CGG repeat region (normally of 8–14 repeats but over 200 repeats when expanded) [66]. The expansion of repeats in the fragile sites results in hyper-methylation, silencing the underlying gene leading to the fragile site expression.…”

Section: Discussionmentioning

confidence: 99%

Genome-Wide Association Study (GWAS) for Growth Rate and Age at Sexual Maturation in Atlantic Salmon (Salmo salar)

et al. 2015

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Early sexual maturation is considered a serious drawback for Atlantic salmon aquaculture as it retards growth, increases production times and affects flesh quality. Although both growth and sexual maturation are thought to be complex processes controlled by several genetic and environmental factors, selection for these traits has been continuously accomplished since the beginning of Atlantic salmon selective breeding programs. In this genome-wide association study (GWAS) we used a 6.5K single-nucleotide polymorphism (SNP) array to genotype ∼480 individuals from the Cermaq Canada broodstock program and search for SNPs associated with growth and age at sexual maturation. Using a mixed model approach we identified markers showing a significant association with growth, grilsing (early sexual maturation) and late sexual maturation. The most significant associations were found for grilsing, with markers located in Ssa10, Ssa02, Ssa13, Ssa25 and Ssa12, and for late maturation with markers located in Ssa28, Ssa01 and Ssa21. A lower level of association was detected with growth on Ssa13. Candidate genes, which were linked to these genetic markers, were identified and some of them show a direct relationship with developmental processes, especially for those in association with sexual maturation. However, the relatively low power to detect genetic markers associated with growth (days to 5 kg) in this GWAS indicates the need to use a higher density SNP array in order to overcome the low levels of linkage disequilibrium observed in Atlantic salmon before the information can be incorporated into a selective breeding program.

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Section: Discussionmentioning

confidence: 99%

Genome-Wide Association Study (GWAS) for Growth Rate and Age at Sexual Maturation in Atlantic Salmon (Salmo salar)

et al. 2015

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“…Seven folate-sensitive fragile sites have been identified within human chromosomes: FRAXA , FRAXE (Knight et al, 1993), FRAXF (Parrish et al, 1994), FRA10A (Sarafidou et al, 2004), FRA11B (Jones et al, 1995), FRA12A (Winnepenninckx et al, 2007) and FRA16A (Nancarrow et al, 1994) (Table 1). In each case, the fragile site is associated with a large non-coding CGG repeat expansion, together with methylation of the CpG sites within the repeat expansion as well as within an adjacent upstream CpG island (Lopez Castel et al, 2010a).…”

Section: Fragile Site-related Mental Retardation Syndromesmentioning

confidence: 99%

DNA Methylation and Trinucleotide Repeat Expansion Diseases

Pook¹

2012

DNA Methylation - From Genomics to Technology

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“…Common fragile sites are considered part of the chromosome structure since they have been described in different mammalian species (Rodentia [10], Carnivora [11,12], Perissodactyla [13], Cetartiodactyla [14] and Primates [7,15,16]), whereas rare fragile sites are found expressed in a small percentage of the human population [17]. In total, 21 human fragile sites have been molecularly characterized: eight rare fragile sites (FRAXA [18], FRAXE [19], FRAXF [20], FRA10A [21], FRA10B [22], FRA11B [23], FRA16B [24], and FRA16A [25]), and 13 common human fragile sites (FRA1E [26], FRA2G [27], FRA3B [28], FRA4F [29], FRA6E [30], FRA6F [31], FRA7E [32], FRA7G [33], FRA7H [34], FRA9E [35], FRA13A [36], FRA16D [37], and FRAXB [38]). Whereas the expression of rare fragile sites is known to be related to the amplification of specific repeat motifs (CCG repeats and AT-rich regions), no simple repeat sequences have been found to be responsible for the instability observed at common fragile sites.…”

Section: Introductionmentioning

confidence: 99%