Absence of the HLA-G*0113N allele in Amerindian populations from the Brazilian Amazon region

Mendes-Junior, Celso Teixeira; Castelli, Erick C.; Moreau, Philippe; Simões, Aguinaldo Luíz; Donadi, Eduardo Antônio

doi:10.1016/j.humimm.2010.01.014

Cited by 8 publications

(4 citation statements)

References 32 publications

(60 reference statements)

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“…The HLA-G *01:05N null allele presents a Cytosine deletion in the last nucleotide of codon 129 or in the first nucleotide of codon 130 (exon 3), leading to a TGA stop signal in codon 189, yielding incomplete formation of the HLA-G1, -G4, and -G5 isoforms and normal expression of HLA-G2, -G3, and -G7 [1, 150, 151]. Similarly, the HLA-G *01:13N allele presents a C → T transition in the first base of codon 54 ( α 1 domain), yielding the formation of a premature TAG stop codon, preventing the production of all membrane-bound and soluble isoforms, and therefore it is probably not expressed [1, 152, 153]. …”

Section: Hla-g Coding Region Polymorphisms Influencing Hla-g Exprementioning

confidence: 99%

“…The frequency of the G*01:05N allele varies among different populations [1], ranging from complete absence in Amerindian populations from the Amazon, Mayans from Guatemala, and Uros from Peru [139, 151, 158], to intermediate frequencies in Africa [155] and higher than 15% in some populations of India [159], while allele G*01:13N is quite rare [152, 153]. It has been proposed that high G*01:05N frequencies are associated with high pathogen load regions, and intrauterine pathogens would act as selective agents, with increased survival of G*01:05N heterozygous fetuses.…”

Section: Hla-g Coding Region Polymorphisms Influencing Hla-g Exprementioning

confidence: 99%

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Transcriptional and Posttranscriptional Regulations of theHLA-GGene

Castelli

Veiga‐Castelli

Yaghi

et al. 2014

Journal of Immunology Research

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HLA-G has a relevant role in immune response regulation. The overall structure of the HLA-G coding region has been maintained during the evolution process, in which most of its variable sites are synonymous mutations or coincide with introns, preserving major functional HLA-G properties. The HLA-G promoter region is different from the classical class I promoters, mainly because (i) it lacks regulatory responsive elements for IFN-γ and NF-κB, (ii) the proximal promoter region (within 200 bases from the first translated ATG) does not mediate transactivation by the principal HLA class I transactivation mechanisms, and (iii) the presence of identified alternative regulatory elements (heat shock, progesterone and hypoxia-responsive elements) and unidentified responsive elements for IL-10, glucocorticoids, and other transcription factors is evident. At least three variable sites in the 3′ untranslated region have been studied that may influence HLA-G expression by modifying mRNA stability or microRNA binding sites, including the 14-base pair insertion/deletion, +3142C/G and +3187A/G polymorphisms. Other polymorphic sites have been described, but there are no functional studies on them. The HLA-G coding region polymorphisms might influence isoform production and at least two null alleles with premature stop codons have been described. We reviewed the structure of the HLA-G promoter region and its implication in transcriptional gene control, the structure of the HLA-G 3′UTR and the major actors of the posttranscriptional gene control, and, finally, the presence of regulatory elements in the coding region.

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Section: Hla-g Coding Region Polymorphisms Influencing Hla-g Exprementioning

confidence: 99%

Section: Hla-g Coding Region Polymorphisms Influencing Hla-g Exprementioning

confidence: 99%

Transcriptional and Posttranscriptional Regulations of theHLA-GGene

Castelli

Veiga‐Castelli

Yaghi

et al. 2014

Journal of Immunology Research

Self Cite

150

180

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“…Another HLA-G null allele G*01:13N has been described, in which expression of all splice variants is compromised. This allele has only been found in heterozygous individuals and the frequency in the population seems to be limited (Mendes-Junior et al, 2010).…”

Section: Hla-g Polymorphism and Pregnancy Successmentioning

confidence: 99%

Human leucocyte antigen class Ib molecules in pregnancy success and early pregnancy loss

Dahl

Hviid

2011

Human Reproduction Update

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BACKGROUND The human leucocyte antigen (HLA) class Ib molecules, HLA-E, -F and -G, are expressed at the materno-fetal interface. Because of the apparent immunoregulatory functions of these proteins, they may be involved in successful acceptance of the semi-allogenic fetus during pregnancy. METHODS The literature on polymorphisms of the three genes, expression patterns of the proteins, and interactions with immune cell receptors have been evaluated to elucidate whether HLA-E, -F and -G are involved in the pathogenesis of some cases of recurrent miscarriages and unexplained infertility. RESULTS AND CONCLUSIONS The HLA class Ib molecules seem to induce suppression of the maternal immune system, but are not necessarily fundamental factors for pregnancy success. However, evidence points towards low expression of these proteins, especially HLA-G, being associated with reduced fertility. To clarify the functions of HLA-E, -F and -G future studies need to link investigations of the polymorphisms in these genes to measurements of protein levels, and examine the role of these proteins in the complex interplay of immune cells and cytokines at the materno-fetal interface.

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“…Because of its position in exon 2, the mutation will affect all HLA-G isoforms. Therefore it is not expected to find homozygous individuals for the HLA-G*01:13N allele (Mendes-Junior et al, 2010). Table 1.…”

Section: Coding Regionmentioning

confidence: 99%

How Micrornas Affect the Expression of Human Leukocyte Antigeng in Pregnancy

Kempers

Dijk

Oudejans

2012

American Journal of Immunology

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The expression of Human Leukocyte Antigen G (HLA-G) on Fetal Extravillous Trophoblast (EVT) cells during pregnancy plays an important role in preventing the fetus from rejection by suppressing the maternal immune system. Decreased expression levels of HLA-G have already shown to be associated with several complications of pregnancy such as pre-eclampsia. However, it remains largely unknown how HLA-G gene expression is regulated with regard to its function and its complications. Polymorphisms and microRNAs affect HLA-G gene expression and the formation of isoforms. Interestingly, three microRNAs, miR-148a, miR-148b and miR-152, downregulate HLA-G expression with functional consequences. Since HLA-G expression levels are reduced in pre-eclampsia without a known cause, we hypothesize that these microRNAs are involved in the development of pre-eclampsia. This review discusses how microRNAs can affect HLA-G gene expression and its functions. Additionally, the role of microRNAs in the development of pre-eclampsia will be reviewed.

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Absence of the HLA-G*0113N allele in Amerindian populations from the Brazilian Amazon region

Cited by 8 publications

References 32 publications

Transcriptional and Posttranscriptional Regulations of theHLA-GGene

Transcriptional and Posttranscriptional Regulations of theHLA-GGene

Human leucocyte antigen class Ib molecules in pregnancy success and early pregnancy loss

How Micrornas Affect the Expression of Human Leukocyte Antigeng in Pregnancy

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