Nomenclature for human DPYD alleles

H. L. McLeod; E. S.R. Collie-Duguid; P. Vreken; M. R. Johnson; X. Wei; A. Sapone; R. B. Diasio; P. Fernandez-Salguero; A. B.P. Van Kuilenberg; A. H. Van Gennip; F. J. Gonzalez

doi:10.1097/00008571-199812000-00001

Nomenclature for human DPYD alleles

H. L. McLeod, E. S.R. Collie-Duguid, P. Vreken, M. R. Johnson, X. Wei, A. Sapone, R. B. Diasio, P. Fernandez-Salguero, A. B.P. Van Kuilenberg, A. H. Van Gennip, F. J. Gonzalez

Pharmacology

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

91 Scopus citations

Abstract

To standardize DPYD allele nomenclature and to conform with international human gene nomenclature guidelines, an alternative to the current arbitrary system is described. Based on recommendations for human genome nomenclature, we propose that each distinct allele be designed by DPYD followed by an asterisk and an Arabic numeral. The number specifies the key mutation and, where appropriate, a letter following the number indicates an additional mutation on the mutant allele. Criteria for classification as a distinct allele are also presented.

Original language	English (US)
Pages (from-to)	455-459
Number of pages	5
Journal	Pharmacogenetics
Volume	8
Issue number	6
DOIs	https://doi.org/10.1097/00008571-199812000-00001
State	Published - 1998

Keywords

Allele nomenclature
DPYD
Dihydropyrimidine dehydrogenase
Pyrimidine metabolism

ASJC Scopus subject areas

General Pharmacology, Toxicology and Pharmaceutics
Genetics

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10.1097/00008571-199812000-00001

Cite this

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title = "Nomenclature for human DPYD alleles",

abstract = "To standardize DPYD allele nomenclature and to conform with international human gene nomenclature guidelines, an alternative to the current arbitrary system is described. Based on recommendations for human genome nomenclature, we propose that each distinct allele be designed by DPYD followed by an asterisk and an Arabic numeral. The number specifies the key mutation and, where appropriate, a letter following the number indicates an additional mutation on the mutant allele. Criteria for classification as a distinct allele are also presented.",

keywords = "Allele nomenclature, DPYD, Dihydropyrimidine dehydrogenase, Pyrimidine metabolism",

author = "McLeod, {H. L.} and Collie-Duguid, {E. S.R.} and P. Vreken and Johnson, {M. R.} and X. Wei and A. Sapone and Diasio, {R. B.} and P. Fernandez-Salguero and {Van Kuilenberg}, {A. B.P.} and {Van Gennip}, {A. H.} and Gonzalez, {F. J.}",

year = "1998",

doi = "10.1097/00008571-199812000-00001",

language = "English (US)",

volume = "8",

pages = "455--459",

journal = "Pharmacogenetics",

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publisher = "Lippincott Williams and Wilkins",

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TY - JOUR

T1 - Nomenclature for human DPYD alleles

AU - McLeod, H. L.

AU - Collie-Duguid, E. S.R.

AU - Vreken, P.

AU - Johnson, M. R.

AU - Wei, X.

AU - Sapone, A.

AU - Diasio, R. B.

AU - Fernandez-Salguero, P.

AU - Van Kuilenberg, A. B.P.

AU - Van Gennip, A. H.

AU - Gonzalez, F. J.

PY - 1998

Y1 - 1998

N2 - To standardize DPYD allele nomenclature and to conform with international human gene nomenclature guidelines, an alternative to the current arbitrary system is described. Based on recommendations for human genome nomenclature, we propose that each distinct allele be designed by DPYD followed by an asterisk and an Arabic numeral. The number specifies the key mutation and, where appropriate, a letter following the number indicates an additional mutation on the mutant allele. Criteria for classification as a distinct allele are also presented.

AB - To standardize DPYD allele nomenclature and to conform with international human gene nomenclature guidelines, an alternative to the current arbitrary system is described. Based on recommendations for human genome nomenclature, we propose that each distinct allele be designed by DPYD followed by an asterisk and an Arabic numeral. The number specifies the key mutation and, where appropriate, a letter following the number indicates an additional mutation on the mutant allele. Criteria for classification as a distinct allele are also presented.

KW - Allele nomenclature

KW - DPYD

KW - Dihydropyrimidine dehydrogenase

KW - Pyrimidine metabolism

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EP - 459

JO - Pharmacogenetics

JF - Pharmacogenetics

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ER -

Nomenclature for human DPYD alleles

Abstract

Keywords

ASJC Scopus subject areas

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