Spontaneously arising red cells with a McLeod-like phenotype in normal donors

David J. Araten; Katie J. Sanders; Jeffrey Pu; Soohee Lee

doi:10.1016/j.mrfmmm.2009.03.009

Spontaneously arising red cells with a McLeod-like phenotype in normal donors

David J. Araten
, Katie J. Sanders
, Jeffrey Pu
, Soohee Lee

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

Very few human genes can be used to identify spontaneous inactivating somatic mutations. We hypothesized that because the XK gene is X-linked, it would be easy to identify spontaneously arising red cells with a phenotype resembling the McLeod syndrome, which results from inherited XK mutations. Here, by flow cytometry, we detect such phenotypic variants at a median frequency of 9 × 10^-6 in neonatal cord blood samples and 39 × 10^-6 in healthy adults (p = 0.004). It may be possible to further investigate the relationship between aging, mutations, and cancer using this approach.

Original language	English (US)
Pages (from-to)	1-5
Number of pages	5
Journal	Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Volume	671
Issue number	1-2
DOIs	https://doi.org/10.1016/j.mrfmmm.2009.03.009
State	Published - Dec 1 2009
Externally published	Yes

Keywords

Flow cytometry
Kell proteins
Mutant frequency
Spontaneous mutation
XK gene

ASJC Scopus subject areas

Molecular Biology
Genetics
Health, Toxicology and Mutagenesis

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10.1016/j.mrfmmm.2009.03.009

Cite this

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title = "Spontaneously arising red cells with a McLeod-like phenotype in normal donors",

abstract = "Very few human genes can be used to identify spontaneous inactivating somatic mutations. We hypothesized that because the XK gene is X-linked, it would be easy to identify spontaneously arising red cells with a phenotype resembling the McLeod syndrome, which results from inherited XK mutations. Here, by flow cytometry, we detect such phenotypic variants at a median frequency of 9 × 10-6 in neonatal cord blood samples and 39 × 10-6 in healthy adults (p = 0.004). It may be possible to further investigate the relationship between aging, mutations, and cancer using this approach.",

keywords = "Flow cytometry, Kell proteins, Mutant frequency, Spontaneous mutation, XK gene",

author = "Araten, \{David J.\} and Sanders, \{Katie J.\} and Jeffrey Pu and Soohee Lee",

note = "Funding Information: Supported in part by NIH grants RO1 CA-109258 (DJA) and RO1 HL075716 (SL). We are indebted to Dr. Marion Reid of the New York Blood Center for assistance in obtaining control red cell samples, Gregory Halverson of the New York Blood Center for assistance in obtaining K14 hybridoma supernatant, and to Bridget Lane of the NYU Cancer Center for assistance in coordinating the collection of blood samples from healthy donors. We would like to thank Dr. Ed Luther for assistance with the iCyte analysis.",

year = "2009",

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doi = "10.1016/j.mrfmmm.2009.03.009",

language = "English (US)",

volume = "671",

pages = "1--5",

journal = "Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis",

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TY - JOUR

T1 - Spontaneously arising red cells with a McLeod-like phenotype in normal donors

AU - Araten, David J.

AU - Sanders, Katie J.

AU - Pu, Jeffrey

AU - Lee, Soohee

N1 - Funding Information: Supported in part by NIH grants RO1 CA-109258 (DJA) and RO1 HL075716 (SL). We are indebted to Dr. Marion Reid of the New York Blood Center for assistance in obtaining control red cell samples, Gregory Halverson of the New York Blood Center for assistance in obtaining K14 hybridoma supernatant, and to Bridget Lane of the NYU Cancer Center for assistance in coordinating the collection of blood samples from healthy donors. We would like to thank Dr. Ed Luther for assistance with the iCyte analysis.

PY - 2009/12/1

Y1 - 2009/12/1

N2 - Very few human genes can be used to identify spontaneous inactivating somatic mutations. We hypothesized that because the XK gene is X-linked, it would be easy to identify spontaneously arising red cells with a phenotype resembling the McLeod syndrome, which results from inherited XK mutations. Here, by flow cytometry, we detect such phenotypic variants at a median frequency of 9 × 10-6 in neonatal cord blood samples and 39 × 10-6 in healthy adults (p = 0.004). It may be possible to further investigate the relationship between aging, mutations, and cancer using this approach.

AB - Very few human genes can be used to identify spontaneous inactivating somatic mutations. We hypothesized that because the XK gene is X-linked, it would be easy to identify spontaneously arising red cells with a phenotype resembling the McLeod syndrome, which results from inherited XK mutations. Here, by flow cytometry, we detect such phenotypic variants at a median frequency of 9 × 10-6 in neonatal cord blood samples and 39 × 10-6 in healthy adults (p = 0.004). It may be possible to further investigate the relationship between aging, mutations, and cancer using this approach.

KW - Flow cytometry

KW - Kell proteins

KW - Mutant frequency

KW - Spontaneous mutation

KW - XK gene

UR - https://www.scopus.com/pages/publications/70350298971

UR - https://www.scopus.com/pages/publications/70350298971#tab=citedBy

U2 - 10.1016/j.mrfmmm.2009.03.009

DO - 10.1016/j.mrfmmm.2009.03.009

M3 - Article

C2 - 19909712

AN - SCOPUS:70350298971

SN - 0027-5107

VL - 671

SP - 1

EP - 5

JO - Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

JF - Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

IS - 1-2

ER -

Spontaneously arising red cells with a McLeod-like phenotype in normal donors

Abstract

Keywords

ASJC Scopus subject areas

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