Genes encoding human killer-cell Ig-like receptors with D1 and D2 extracellular domains all contain untranslated pseudoexons encoding a third Ig-like domain

Carlos Vilches, Marcelo J. Pando, Peter Parham

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Human killer-cell immunoglobulin-like receptors (KIR) show three types of organization of their extracellular domains: D0-D1-D2 in KIR3D, D1-D2 in the majority of KIR2D, and D0-D2 in KIR2DL4 and the novel KIR2DL5. The gene for a KIR2DL3 variant, which has a D1-D2 structure, has been shown previously to have a nonexpressed region (pseudoexon 3) that is paralogous to the exon encoding the D0 domain of other KIR. This pseudoexon is not expressed because it is skipped during splicing of pre-mRNA. In this study, we demonstrate that all eight genes encoding human KIR with D1-D2 configuration (KIR2DL1-KIR2DL3, KIR2DS1-KIR2DS5) have similarly untranslated pseudoexons. Whereas the pseudoexons of four of these KIR genes bear nonsense mutations and/or altered splicing sites, the pseudoexons in the other four KIR genes have no major structural abnormalities, indicating that other mechanisms are responsible for inactivation of their exons 3. A comparison of the sequences on pseudoexons 3 with the paralogous expressed exons suggests that an exonic splicing enhancer may be necessary for the expression of exon 3 in KIR genes.

Original languageEnglish (US)
Pages (from-to)639-646
Number of pages8
JournalImmunogenetics
Volume51
Issue number8-9
DOIs
StatePublished - 2000
Externally publishedYes

Fingerprint

KIR Receptors
Exons
Genes
Nonsense Codon
RNA Precursors
Immunoglobulin Domains

Keywords

  • Genomic structure
  • Human
  • Killer-cell immunoglobulin-like receptors
  • NK cells
  • Splicing

ASJC Scopus subject areas

  • Immunology
  • Genetics

Cite this

Genes encoding human killer-cell Ig-like receptors with D1 and D2 extracellular domains all contain untranslated pseudoexons encoding a third Ig-like domain. / Vilches, Carlos; Pando, Marcelo J.; Parham, Peter.

In: Immunogenetics, Vol. 51, No. 8-9, 2000, p. 639-646.

Research output: Contribution to journalArticle

@article{e5ab9fa980e34347bb2ffbc342f32da4,
title = "Genes encoding human killer-cell Ig-like receptors with D1 and D2 extracellular domains all contain untranslated pseudoexons encoding a third Ig-like domain",
abstract = "Human killer-cell immunoglobulin-like receptors (KIR) show three types of organization of their extracellular domains: D0-D1-D2 in KIR3D, D1-D2 in the majority of KIR2D, and D0-D2 in KIR2DL4 and the novel KIR2DL5. The gene for a KIR2DL3 variant, which has a D1-D2 structure, has been shown previously to have a nonexpressed region (pseudoexon 3) that is paralogous to the exon encoding the D0 domain of other KIR. This pseudoexon is not expressed because it is skipped during splicing of pre-mRNA. In this study, we demonstrate that all eight genes encoding human KIR with D1-D2 configuration (KIR2DL1-KIR2DL3, KIR2DS1-KIR2DS5) have similarly untranslated pseudoexons. Whereas the pseudoexons of four of these KIR genes bear nonsense mutations and/or altered splicing sites, the pseudoexons in the other four KIR genes have no major structural abnormalities, indicating that other mechanisms are responsible for inactivation of their exons 3. A comparison of the sequences on pseudoexons 3 with the paralogous expressed exons suggests that an exonic splicing enhancer may be necessary for the expression of exon 3 in KIR genes.",
keywords = "Genomic structure, Human, Killer-cell immunoglobulin-like receptors, NK cells, Splicing",
author = "Carlos Vilches and Pando, {Marcelo J.} and Peter Parham",
year = "2000",
doi = "10.1007/s002510000184",
language = "English (US)",
volume = "51",
pages = "639--646",
journal = "Immunogenetics",
issn = "0093-7711",
publisher = "Springer Verlag",
number = "8-9",

}

TY - JOUR

T1 - Genes encoding human killer-cell Ig-like receptors with D1 and D2 extracellular domains all contain untranslated pseudoexons encoding a third Ig-like domain

AU - Vilches, Carlos

AU - Pando, Marcelo J.

AU - Parham, Peter

PY - 2000

Y1 - 2000

N2 - Human killer-cell immunoglobulin-like receptors (KIR) show three types of organization of their extracellular domains: D0-D1-D2 in KIR3D, D1-D2 in the majority of KIR2D, and D0-D2 in KIR2DL4 and the novel KIR2DL5. The gene for a KIR2DL3 variant, which has a D1-D2 structure, has been shown previously to have a nonexpressed region (pseudoexon 3) that is paralogous to the exon encoding the D0 domain of other KIR. This pseudoexon is not expressed because it is skipped during splicing of pre-mRNA. In this study, we demonstrate that all eight genes encoding human KIR with D1-D2 configuration (KIR2DL1-KIR2DL3, KIR2DS1-KIR2DS5) have similarly untranslated pseudoexons. Whereas the pseudoexons of four of these KIR genes bear nonsense mutations and/or altered splicing sites, the pseudoexons in the other four KIR genes have no major structural abnormalities, indicating that other mechanisms are responsible for inactivation of their exons 3. A comparison of the sequences on pseudoexons 3 with the paralogous expressed exons suggests that an exonic splicing enhancer may be necessary for the expression of exon 3 in KIR genes.

AB - Human killer-cell immunoglobulin-like receptors (KIR) show three types of organization of their extracellular domains: D0-D1-D2 in KIR3D, D1-D2 in the majority of KIR2D, and D0-D2 in KIR2DL4 and the novel KIR2DL5. The gene for a KIR2DL3 variant, which has a D1-D2 structure, has been shown previously to have a nonexpressed region (pseudoexon 3) that is paralogous to the exon encoding the D0 domain of other KIR. This pseudoexon is not expressed because it is skipped during splicing of pre-mRNA. In this study, we demonstrate that all eight genes encoding human KIR with D1-D2 configuration (KIR2DL1-KIR2DL3, KIR2DS1-KIR2DS5) have similarly untranslated pseudoexons. Whereas the pseudoexons of four of these KIR genes bear nonsense mutations and/or altered splicing sites, the pseudoexons in the other four KIR genes have no major structural abnormalities, indicating that other mechanisms are responsible for inactivation of their exons 3. A comparison of the sequences on pseudoexons 3 with the paralogous expressed exons suggests that an exonic splicing enhancer may be necessary for the expression of exon 3 in KIR genes.

KW - Genomic structure

KW - Human

KW - Killer-cell immunoglobulin-like receptors

KW - NK cells

KW - Splicing

UR - http://www.scopus.com/inward/record.url?scp=0033934805&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033934805&partnerID=8YFLogxK

U2 - 10.1007/s002510000184

DO - 10.1007/s002510000184

M3 - Article

C2 - 10941835

AN - SCOPUS:0033934805

VL - 51

SP - 639

EP - 646

JO - Immunogenetics

JF - Immunogenetics

SN - 0093-7711

IS - 8-9

ER -