A mutation in KIR3DS1 that results in truncation and lack of cell surface expression.

A mutation in KIR3DS1 that results in truncation and lack of cell surface expression. Research Abstract Details 

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A mutation in KIR3DS1 that results in truncation and lack of cell surface expression. Abstract Text:

Maureen P Martin, Pascal,Meredith Yeager,John Phair,Gregory D Kirk,Keith Hoots,Stephen J O'Brien,Stephen K Anderson,Mary Carrington,Maureen P Martin, Pascal,Meredith Yeager,John Phair,Gregory D Kirk,Keith Hoots,Stephen J O'Brien,Stephen K Anderson,Mary Carrington,

The KIR gene cluster exhibits a high degree of polymorphism in terms of gene content as well as allelic polymorphism, and data suggest that it is evolving rapidly. The KIR3DL1 locus is one of the most polymorphic loci within this cluster and is unique in that it encodes an activating receptor KIR3DS1, as well as multiple inhibitory KIR3DL1 allotypes. Because KIR3DS1 has been implicated in a number of diseases, we tested for the presence of KIR3DS1 variants that might affect its expression and activating capacity. Preliminary FACS analysis indicated that indeed some individuals with the KIR3DS1 allele showed no cell surface expression of the molecule. Sequencing analysis identified a variant with a complex deletion/substitution mutation in exon 4 (which encodes the D1 extracellular domain), resulting in a premature stop codon. We subsequently genotyped 3,960 unrelated individuals and determined the frequencies of this allele across geographically distinct world populations. The data indicate that the null KIR3DS1 allele is uncommon, arose on a single haplotype, and spread across geographically distinct populations.

A mutation in KIR3DS1 that results in truncation and lack of cell surface expression. Publishing Authors By Initials

MP Martin,V Pascal,M Yeager,J Phair,GD Kirk,K Hoots,SJ O'Brien,SK Anderson,M Carrington,MP Martin,V Pascal,M Yeager,J Phair,GD Kirk,K Hoots,SJ O'Brien,SK Anderson,M Carrington,

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A mutation in KIR3DS1 that results in truncation and lack of cell surface expression. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Intr

Journal: Immunogenetics

VOLUME: 59

Page Numbers: 823-9

Journal Abbreviation: Immunogenetics

ISSN: 0093-7711

DAY: 9

MONTH: 08

YEAR: 2007

A mutation in KIR3DS1 that results in truncation and lack of cell surface expression. Information

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LANGUAGE: eng

NlmUniqueID: 420404

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Grant and Affiliation Information for A mutation in KIR3DS1 that results in truncation and lack of cell surface expression.

AFFILIATION: Laboratory of Genomic Diversity, SAIC-Frederick, Inc., NCI-Frederick, Frederick, MD 21702, USA.

Country: United States

AGENCY: United States NCI

GRANT: N01-CO-12400

ACRONYM: CO

MEDLINETA: Immunogenetics

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