PMID- 22050290
OWN - NLM
STAT- MEDLINE
DCOM- 20120416
LR  - 20231213
IS  - 1399-0039 (Electronic)
IS  - 0001-2815 (Linking)
VI  - 79
IP  - 1
DP  - 2012 Jan
TI  - Non-classical HLA-E gene variability in Brazilians: a nearly invariable locus 
      surrounded by the most variable genes in the human genome.
PG  - 15-24
LID - 10.1111/j.1399-0039.2011.01801.x [doi]
AB  - The non-classical human leukocyte antigen (HLA) class I genes present a very low 
      rate of variation. So far, only 10 HLA-E alleles encoding three proteins have 
      been described, but only two are frequently found in worldwide populations. 
      Because of its historical background, Brazilians are very suitable for population 
      genetic studies. Therefore, 104 bone marrow donors from Brazil were evaluated for 
      HLA-E exons 1-4. Seven variation sites were found, including two known single 
      nucleotide polymorphisms (SNPs) at positions +424 and +756 and five new SNPs at 
      positions +170 (intron 1), +1294 (intron 3), +1625, +1645 and +1857 (exon 4). 
      Haplotyping analysis did show eight haplotypes, three of them known as 
      E*01:01:01, E*01:03:01 and E*01:03:02:01 and five HLA-E new alleles that carry 
      the new variation sites. The HLA-E*01:01:01 allele was the predominant haplotype 
      (62.50%), followed by E*01:03:02:01 (24.52%). Selective neutrality tests have 
      disclosed an interesting pattern of selective pressures in which balancing 
      selection is probably shaping allele frequency distributions at an SNP at exon 3 
      (codon 107), sequence diversity at exon 4 and the non-coding regions is facing 
      significant purifying pressure. Even in an admixed population such as the 
      Brazilian one, the HLA-E locus is very conserved, presenting few polymorphic SNPs 
      in the coding region.
CI  - (c) 2011 John Wiley & Sons A/S.
FAU - Veiga-Castelli, L C
AU  - Veiga-Castelli LC
AD  - Divisao de Imunologia Clinica, Departamento de Clinica Medica, Faculdade de 
      Medicina de Ribeirao Preto (FMRP), Universidade de Sao Paulo (USP), Ribeirao 
      Preto, SP, Brasil. luciana.veigacastelli@gmail.com
FAU - Castelli, E C
AU  - Castelli EC
FAU - Mendes, C T Jr
AU  - Mendes CT Jr
FAU - da Silva, W A Jr
AU  - da Silva WA Jr
FAU - Faucher, M-C
AU  - Faucher MC
FAU - Beauchemin, K
AU  - Beauchemin K
FAU - Roger, M
AU  - Roger M
FAU - Moreau, P
AU  - Moreau P
FAU - Donadi, E A
AU  - Donadi EA
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20111103
PL  - England
TA  - Tissue Antigens
JT  - Tissue antigens
JID - 0331072
RN  - 0 (Histocompatibility Antigens Class I)
SB  - IM
MH  - *Alleles
MH  - Brazil
MH  - Exons/genetics
MH  - Female
MH  - Gene Frequency/genetics
MH  - *Genetic Loci
MH  - Genome, Human/*physiology
MH  - Haplotypes
MH  - Histocompatibility Antigens Class I/*genetics
MH  - Humans
MH  - Male
MH  - Open Reading Frames/genetics
MH  - *Polymorphism, Single Nucleotide
MH  - HLA-E Antigens
EDAT- 2011/11/05 06:00
MHDA- 2012/04/17 06:00
CRDT- 2011/11/05 06:00
PHST- 2011/11/05 06:00 [entrez]
PHST- 2011/11/05 06:00 [pubmed]
PHST- 2012/04/17 06:00 [medline]
AID - 10.1111/j.1399-0039.2011.01801.x [doi]
PST - ppublish
SO  - Tissue Antigens. 2012 Jan;79(1):15-24. doi: 10.1111/j.1399-0039.2011.01801.x. 
      Epub 2011 Nov 3.