Association of intronic repetition of <i>SLC26A4</i> gene with Hashimoto thyroiditis disease

Belguith-Maalej, Salima; Kallel, Rihab; Mnif, Mouna; Abid, M.; Ayadi, Hammadi; Kacem, Hassen Hadj

doi:10.1017/s0016672313000037

Cited by 4 publications

(4 citation statements)

References 28 publications

(29 reference statements)

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“…Moreover, some of these repeats can have an effect on the phenotype and the length of microsatellites is particularly important in this aspect (Sjakste et al, 2013). Long alleles are associated to high predisposition to pathologies (Belguith-Maalej et al, 2013). In relation to coat color, a recent study revealed the presence of a large intronic insertion in Tyrosinase Associated Protein 1 ( TYRP1 ) of the American Mink that alters the splicing of the gene and produces the American Palomino phenotype (Cirera et al, 2016).…”

Section: Discussionmentioning

confidence: 99%

TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes

et al. 2019

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Tyrosinase, encoded by TYR gene, is an enzyme that plays a major role in mammalian pigmentation. It catalyzes the oxidation of L -dihydroxy-phenylalanine (DOPA) to DOPA quinone, a precursor of both types of melanin: eumelanin and pheomelanin. TYR is commonly known as the albino locus since mutations in this gene result in albinism in several species. However, many other TYR mutations have been found to cause diluted phenotypes, like the Himalayan or chinchilla phenotypes in mice. The llama ( Lama glama ) presents a wide variety of coat colors ranging from non-diluted phenotypes (eumelanic and pheomelanic), through different degrees of dilution, to white. To investigate the possible contribution of TYR gene to coat color variation in llamas, we sequenced TYR exons and their flanking regions and genotyped animals with diluted, non-diluted, and white coat, including three blue-eyed white individuals. Moreover, we analyzed mRNA expression levels in skin biopsies by qPCR. TYR coding region presented nine SNPs, of which three were non-synonymous, c.428A > G, c.859G > T, and c.1490G > T. We also identified seven polymorphisms in non-coding regions, including two microsatellites, an homopolymeric repeat, and five SNPs: one in the promoter region (c.1-26C > T), two in the 3′-UTR, and two flanking the exons. Although no complete association was found between coat color and SNPs, c.1-26C > T was partially associated to diluted phenotypes. Additionally, the frequency of the G allele from c.428A > G was significantly higher in white compared to non-diluted. Results from qPCR showed that expression levels of TYR in white llamas were significantly lower ( p < 0.05) than those in diluted and non-diluted phenotypes. Screening for variation in regulatory regions of TYR did not reveal polymorphisms that explain such differences. However, data from this study showed that TYR expression levels play a role in llama pigmentation.

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Section: Discussionmentioning

confidence: 99%

TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes

et al. 2019

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“…The intronic microsatellites repeats are implicated in the pathogenic mechanisms of several autoimmune diseases. The SLC26A4 gene, involved in the genetic susceptibility of autoimmune thyroid disease, harbours two microsatellites in the introns 10 and 20; longer alleles of these markers appear to be associated with Hashimoto thyroiditis [106].…”

Section: Dna Secondary Structurementioning

confidence: 99%

Structural and functional significance of microsatellites

2016

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Here we review literature data on impact of microsatellite repeats on DNA and chromatin structure and the results of studies on association between the length of microsatellite repeats and predisposition to pathologies. The DNA secondary structure is modified in microsatellite sites, the repeats favour formation of Z-DNA, hairpins, triplexes and quadruplexes. The chromatin structure and chromatin loop organization are also modified in microsatellite sites. The data of association studies are classified according to the localization of the microsatellite: in the gene promoter, in exon 1 part coding the signal sequence, in the gene introns, coding area s and 3'-UTRs.

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“…Intronic microsatellites repeats are implicated in the pathogenic mechanisms of several autoimmune diseases. The SLC26A4 gene, involved in the genetic susceptibility of autoimmune thyroid disease, harbors 2 microsatellites in introns 10 and 20, and longer alleles of these markers appear to be associated with Hashimoto thyroiditis (58). The intronic rs63749745 marker of the 14q13 locus has manifested a high level of association with Graves' disease (59), and rs71928782, rs5807818, rs71444202, and rs345802276 have been found to be in association with juvenile idiopathic arthritis in children (60).…”

Section: Introductionmentioning

confidence: 99%

Functional Significance of Microsatellite Markers

2014

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The review summarizes literature data on the positive results of association studies between the length of microsatellite repeats and predisposition to pathologies. Actually, the data can be classified according to the localization of the microsatellite: in the gene promoter, in the part of exon 1 coding the signal sequence, in gene introns, in the coding areas of genes, and in 3'-untranslated regions. The functional significance of microsatellite length changes can be evaluated in many cases. The authors came up to the conclusion that further studies on microsatellite associations with diseases remain prospective as they reflect changes in the gene functional activity.

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Association of intronic repetition of SLC26A4 gene with Hashimoto thyroiditis disease

Cited by 4 publications

References 28 publications

TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes

TYR Gene in Llamas: Polymorphisms and Expression Study in Different Color Phenotypes

Structural and functional significance of microsatellites

Functional Significance of Microsatellite Markers

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