title: HLA-G1 protein expression is not essential for fetal survival.
abstract: HLA-G is a nonclassical, class I HLA gene that is primarily expressed by fetal cells at the maternal-fetal interface and is thought to play a key role in the induction of tolerance in pregnancy. This paper reports the identification of a single base pair deletion at position 1597 (1597delC) in exon 3 (encoding the alpha2-domain) of HLA-G on 20 of 272 (7.4 per cent) African American chromosomes, three of 102 (2.9 per cent) Hispanic chromosomes, and none of 134 Caucasian chromosomes. This relatively common frameshift mutation results in amino acid substitutions in all of the residues in the second half of exon 3 including the conserved cysteine at codon 164. An adult individual was identified who was homozygous for this 'null' allele, and a first trimester placenta that was homozygous for 1597delC had no detectable HLA-G1 protein. These data indicate that expression of HLA-G1 protein is not essential for fetal survival.
authors.affiliation: Center for Medical Genetics, Department of Obstetrics and Gynecology, The University of Chicago, IL 60637, USA. carole@genetics.uchicago.edu
authors.forename: C
authors.initials: C
authors.lastname: Ober
authors.forename: C
authors.initials: C
authors.lastname: Aldrich
authors.forename: B
authors.initials: B
authors.lastname: Rosinsky
authors.forename: A
authors.initials: A
authors.lastname: Robertson
authors.forename: M A
authors.initials: MA
authors.lastname: Walker
authors.forename: S
authors.initials: S
authors.lastname: Willadsen
authors.forename: M S
authors.initials: MS
authors.lastname: Verp
authors.forename: D E
authors.initials: DE
authors.lastname: Geraghty
authors.forename: J S
authors.initials: JS
authors.lastname: Hunt
mesh_terms: D000328:Adult; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005328:Fetal Viability / Q000502:physiology*; D016368:Frameshift Mutation; D005787:Gene Frequency; D005805:Genes, MHC Class I / Q000502:physiology*; D006680:HLA Antigens / Q000235:genetics / Q000378:metabolism*; D059951:HLA-G Antigens; D015395:Histocompatibility Antigens Class I / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007124:Immunoenzyme Techniques; D008297:Male; D010375:Pedigree; D010920:Placenta / Q000378:metabolism; D017354:Point Mutation; D011247:Pregnancy; D011261:Pregnancy Trimester, First
chemical_list: D017931:DNA Primers; D006680:HLA Antigens; D059951:HLA-G Antigens; D015395:Histocompatibility Antigens Class I; D004247:DNA