Investigation of human protein variants and their frequency in the general population

Dobrin Nedelkov, David A. Phillips, Kemmons A. Tubbs, Randall W. Nelson

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

Genetic variations and posttranslational modifications give rise to structural diversity in fully expressed human proteins. Structural modifications can also be induced during the life cycle of a protein and can lead to impaired functioning and pathological conditions. Although a large number of protein modifications have been discovered thus far, their incidence among the general population has not been determined. Here we show that human proteins exhibit a wide range of modifications present at various frequencies in the general population. The screening of 1,000 individuals from four geographical regions in the United States for five plasma proteins revealed the existence of 27 protein modifications. Some variants, such as those resulting from oxidation and single amino acid terminal truncations, were observed in the majority of individuals, whereas point mutations and extensive sequence truncations were detected in only a few individuals. Gender correlations were observed for two protein modifications. The data obtained reveal the extent of structural diversity in the general populace and represent the first such catalogue of structural protein modifications. Systematic studies of this kind will help redefine the normal human proteome and reveal the effects of these modifications in pathological processes.

Original languageEnglish (US)
Pages (from-to)1183-1187
Number of pages5
JournalMolecular and Cellular Proteomics
Volume6
Issue number7
DOIs
StatePublished - Jul 2007

Fingerprint

Population
Proteins
Geographical regions
Pathologic Processes
Proteome
Post Translational Protein Processing
Life Cycle Stages
Point Mutation
Blood Proteins
Life cycle
Screening
Amino Acids
Oxidation
Incidence

ASJC Scopus subject areas

  • Biochemistry

Cite this

Investigation of human protein variants and their frequency in the general population. / Nedelkov, Dobrin; Phillips, David A.; Tubbs, Kemmons A.; Nelson, Randall W.

In: Molecular and Cellular Proteomics, Vol. 6, No. 7, 07.2007, p. 1183-1187.

Research output: Contribution to journalArticle

Nedelkov, Dobrin ; Phillips, David A. ; Tubbs, Kemmons A. ; Nelson, Randall W. / Investigation of human protein variants and their frequency in the general population. In: Molecular and Cellular Proteomics. 2007 ; Vol. 6, No. 7. pp. 1183-1187.
@article{e091b9d1d429419bb64ca59bde1cafac,
title = "Investigation of human protein variants and their frequency in the general population",
abstract = "Genetic variations and posttranslational modifications give rise to structural diversity in fully expressed human proteins. Structural modifications can also be induced during the life cycle of a protein and can lead to impaired functioning and pathological conditions. Although a large number of protein modifications have been discovered thus far, their incidence among the general population has not been determined. Here we show that human proteins exhibit a wide range of modifications present at various frequencies in the general population. The screening of 1,000 individuals from four geographical regions in the United States for five plasma proteins revealed the existence of 27 protein modifications. Some variants, such as those resulting from oxidation and single amino acid terminal truncations, were observed in the majority of individuals, whereas point mutations and extensive sequence truncations were detected in only a few individuals. Gender correlations were observed for two protein modifications. The data obtained reveal the extent of structural diversity in the general populace and represent the first such catalogue of structural protein modifications. Systematic studies of this kind will help redefine the normal human proteome and reveal the effects of these modifications in pathological processes.",
author = "Dobrin Nedelkov and Phillips, {David A.} and Tubbs, {Kemmons A.} and Nelson, {Randall W.}",
year = "2007",
month = "7",
doi = "10.1074/mcp.M700023-MCP200",
language = "English (US)",
volume = "6",
pages = "1183--1187",
journal = "Molecular and Cellular Proteomics",
issn = "1535-9476",
publisher = "American Society for Biochemistry and Molecular Biology Inc.",
number = "7",

}

TY - JOUR

T1 - Investigation of human protein variants and their frequency in the general population

AU - Nedelkov, Dobrin

AU - Phillips, David A.

AU - Tubbs, Kemmons A.

AU - Nelson, Randall W.

PY - 2007/7

Y1 - 2007/7

N2 - Genetic variations and posttranslational modifications give rise to structural diversity in fully expressed human proteins. Structural modifications can also be induced during the life cycle of a protein and can lead to impaired functioning and pathological conditions. Although a large number of protein modifications have been discovered thus far, their incidence among the general population has not been determined. Here we show that human proteins exhibit a wide range of modifications present at various frequencies in the general population. The screening of 1,000 individuals from four geographical regions in the United States for five plasma proteins revealed the existence of 27 protein modifications. Some variants, such as those resulting from oxidation and single amino acid terminal truncations, were observed in the majority of individuals, whereas point mutations and extensive sequence truncations were detected in only a few individuals. Gender correlations were observed for two protein modifications. The data obtained reveal the extent of structural diversity in the general populace and represent the first such catalogue of structural protein modifications. Systematic studies of this kind will help redefine the normal human proteome and reveal the effects of these modifications in pathological processes.

AB - Genetic variations and posttranslational modifications give rise to structural diversity in fully expressed human proteins. Structural modifications can also be induced during the life cycle of a protein and can lead to impaired functioning and pathological conditions. Although a large number of protein modifications have been discovered thus far, their incidence among the general population has not been determined. Here we show that human proteins exhibit a wide range of modifications present at various frequencies in the general population. The screening of 1,000 individuals from four geographical regions in the United States for five plasma proteins revealed the existence of 27 protein modifications. Some variants, such as those resulting from oxidation and single amino acid terminal truncations, were observed in the majority of individuals, whereas point mutations and extensive sequence truncations were detected in only a few individuals. Gender correlations were observed for two protein modifications. The data obtained reveal the extent of structural diversity in the general populace and represent the first such catalogue of structural protein modifications. Systematic studies of this kind will help redefine the normal human proteome and reveal the effects of these modifications in pathological processes.

UR - http://www.scopus.com/inward/record.url?scp=34547093160&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34547093160&partnerID=8YFLogxK

U2 - 10.1074/mcp.M700023-MCP200

DO - 10.1074/mcp.M700023-MCP200

M3 - Article

VL - 6

SP - 1183

EP - 1187

JO - Molecular and Cellular Proteomics

JF - Molecular and Cellular Proteomics

SN - 1535-9476

IS - 7

ER -