Back to Search
Start Over
Genomic characterization of KIR2DL4 in families and unrelated individuals reveals extensive diversity in exon and intron sequences including a common frameshift variation occurring in several alleles
- Source :
- Tissue antigens. 65(5)
- Publication Year :
- 2005
-
Abstract
- The KIR2DL4 gene including a portion of exon 1 through exon 9 was sequenced from two families and eight cell lines from the International Histocompatibility Workshop (IHWS). Two known alleles and eight variants were detected. Overall, there were five synonymous and three non-synonymous changes when the variants were compared to the coding sequences of the most closely related known alleles plus a common frameshift change in five of the variant alleles. Alignment of the new variants with all known alleles showed that the regions encoding the extracellular region and the cytoplasmic tail were the most polymorphic. Two non-synonymous changes, P146H and L161V, occurred in an extracellular immunoglobulin-like domain. Five of the eight variants had a single adenine deletion in the exon encoding the transmembrane region, potentially resulting in a truncated protein lacking the cytoplasmic tail. The distribution of the deletion variant among many KIR2DL4 alleles may explain the high frequency of this variation in the population. Four of the eight consanguineous IHWS cell lines were found to be heterozygous for KIR2DL4 carrying two alleles that differed from one another by a few nucleotide substitutions. Analysis of intron sequences in the families revealed the nature and distribution of interspersed repeat elements which comprise 46% of the KIR2DL4 nucleotide sequence and consist of 12 elements including six SINEs (13.73% of the total length), one LINE (12.41%), and five LTR elements (19.51%). The results revealed the presence of extensive diversity in the KIR2DL4 gene. This is the first extensive report providing both exon and intron data in related individuals.
- Subjects :
- Genotype
Sequence analysis
Immunology
Interspersed repeat
Population
Amino Acid Motifs
DNA Mutational Analysis
Mutation, Missense
Biology
Biochemistry
Polymerase Chain Reaction
Frameshift mutation
Exon
Consanguinity
Receptors, KIR
Sequence Homology, Nucleic Acid
Genetics
Immunology and Allergy
Humans
Point Mutation
Receptors, Immunologic
education
Frameshift Mutation
Alleles
Phylogeny
Cell Line, Transformed
Repetitive Sequences, Nucleic Acid
education.field_of_study
Intron
General Medicine
Exons
Sequence Analysis, DNA
Introns
Histocompatibility
Protein Structure, Tertiary
Amino Acid Substitution
Receptors, KIR2DL4
Sequence Alignment
Subjects
Details
- ISSN :
- 00012815
- Volume :
- 65
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Tissue antigens
- Accession number :
- edsair.doi.dedup.....313cb503eabb3d557fc46ae0d5492eb4