Evidence for natural selection in the HAVCR1 gene: high degree of amino-acid variability in the mucin domain of human HAVCR1 protein

@article{Nakajima2005EvidenceFN,
  title={Evidence for natural selection in the HAVCR1 gene: high degree of amino-acid variability in the mucin domain of human HAVCR1 protein},
  author={T. Nakajima and S. Wooding and Y. Satta and N. Jinnai and S. Goto and I. Hayasaka and N. Saitou and J. Guanjun and K. Tokunaga and L. Jorde and M. Emi and I. Inoue},
  journal={Genes and Immunity},
  year={2005},
  volume={6},
  pages={398-406}
}
The family of genes encoding T-cell immunoglobulin and mucin-domain containing proteins (Tim), which are cell-surface molecules expressed in CD4+ T helper cells, has important roles in the immune system. Here, we report three unusual patterns of genetic variation in the human hepatitis A virus cellular receptor 1 gene (HAVCR1) that are similar to patterns observed in major histocompatibility complex loci. First, levels of polymorphism in exon 4 of HAVCR1 were exceptionally high in humans… Expand
A 6-amino acid insertion/deletion polymorphism in the mucin domain of TIM-1 confers protections against HIV-1 infection.
TLDR
It is suggested that the deletion allele of TIM-1 protects from HIV-1 infection with a recessive effect, and in vitro infection assays of CD4+ T lymphocytes indicated that homozygosity for the short allele is associated with lower rate ofAIDS replication. Expand
Lineage-specific evolution of T-cell immunoglobulin and mucin domain 1 gene in the primates
T-cell immunoglobulin domain and mucin domain containing protein 1 (TIM1), also known as a cellular receptor for hepatitis A virus (HAVCR1) or a molecule induced by ischemic injury in the kidneyExpand
Status of TIM-1 exon 4 haplotypes and CD4+T cell counts in HIV-1 seroprevalent North Indians.
TLDR
A comparison of CD4+T counts between D3-A individuals on ART or ART naïve did not show any significant difference plausibly due to confounding nature of ART and other factors, and the TIM1 haplotype diversity showed no association with susceptibility to HIV-1 infection. Expand
Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes
TLDR
A sex-specific effect of NPC1 variants on T2D risk is indicated and putative binding sites for filoviruses entry are described, which are described as being driven by men. Expand
Relationship of Severity of Hepatitis A with Polymorphisms in Hepatitis A Virus Cellular Receptor 1 (HAVCR1) Gene.
TLDR
In the study population, the 157insMTTTVP variant of the HAVCR1 gene was not associated with more severe outcome of HAV infection and further studies are needed to assess the relation of this genetic variation with disease outcome. Expand
A polymorphism in TIM1 is associated with susceptibility to severe hepatitis A virus infection in humans.
TLDR
HAV infection has driven the natural selection of shorter forms of the TIM-1 protein, which binds HAV less efficiently, thereby protecting against severe HAV-induced disease, but which may predispose toward inflammation associated with asthma and allergy. Expand
HAVCR1 Gene Haplotypes and Infection by Different Viral Hepatitis C Virus Genotypes
TLDR
The HAVCR1 gene region was identified as a candidate for hepatitis C virus (HCV) natural clearance in a genotyping study of selected immune response genes in both European-American and African-American populations and could be involved in susceptibility or resistance to infection by a particular HCV genotype. Expand
Hepatitis A virus: host interactions, molecular epidemiology and evolution.
TLDR
Up-to-date information on the HAV molecular epidemiology and evolution is presented, and the most relevant features of the Hav-host interactions are highlighted. Expand
Genetic Association Studies between the T Cell Immunoglobulin Mucin (TIM) Gene Locus and Childhood Atopic Dermatitis
TLDR
It is suggested that genetic variants in the ligand for TIM-1, TIM-4, also contribute to the presentation of AD and related disorders. Expand
TIM1 haplotype may control the disease progression to AIDS in a HIV-1-infected female cohort in Thailand
TLDR
TIM1 D3-A haplotype is associated with the delay of disease progression to AIDS in the HIV-1 infected Thai females and was tightly linked to the lower expression levels of TIM1. Expand
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