ISSN 1607-6729, Doklady Biochemistry and Biophysics, 2011, Vol. 437, pp. 90–93. © Pleiades Publishing, Ltd., 2011.
Original Russian Text © A.L. Chernobrovkin, V.A. Mitkevich, I.A. Popov, M.I. Indeikina, E.V. Ilgisonis, A.V. Lisitsa, A.I. Archakov, 2011, published in Doklady Akademii Nauk,
2011, Vol. 437, No. 4, pp. 561–564.
90
Modern technologies of full genome sequencing
and resequencing make it possible to identify many
individual features of organisms at the genomic
level—single nucleotide polymorphisms (SNPs).
Among them, nonsynonymous polymorphisms are of
the greatest interest, because they lead to changes in
the primary structure of proteins [1]. Such mutations,
if their translation is detected in a protein sequence,
are called single amino acid polymorphisms (SAPs).
It is assumed that SAPs are responsible for the pheno-
type of an individual, including predisposition to dis-
eases [2] and susceptibility to drugs [3, 4]. For exam-
ple, approximately 100 SAPs are known for tran-
sthyretin, 85 of which lead to intensification of
formation of amyloid fibrils and cause hereditary sys-
temic amyloidosis [2].
High-performance methods of mass-spectrometric
analysis make it possible to accurately determine the
amino acid sequence of proteins. Using proteomic
methods, it is possible to identify modified variants of
proteins [5, 6], in particular, to perform proteotyping
(i.e., to identify SAPs and other protein modifications
by mass-spectrometric procedure [7]). The author of
[5], population proteotyping was performed by the
hybrid immunoaffinity–mass-spectrometry (IA-MS)
technique. In total, during the analysis of 1000 blood
plasma samples, 27 modifications in five analyzed pro-
teins were detected, including 20 posttranslational
modifications and seven SAPs. Amino acid polymor-
phisms occurred in 87% protein; the highest frequency
of mutations was found in transthyretin.
Proteotyping can be used to determine the relative
level of expression of alleles in heterozygous genes.
Roth et al., who used the top–down method of protein
identification, showed heterozygous expression of glu-
cose-6-phosphatase and confirmed their results by
using genotyping [6].
IA-MS and top–down approaches are not com-
monly used because of technical or methodological
difficulties. However, there are methods for identifica-
tion of SAPs using the widely used bottom–up mass-
spectrometric analysis. These methods are based on
the use of databases containing numerous ample of
protein sequences. Variants are added to the standard
databases by including sequences that carry docu-
mented SAPs [8]. In addition, the expressed sequence
tags (EST) database can also be used as such a data-
base. [9].
In this paper, we propose an iterative method for
analyzing mass spectrometry data that allows targeted
search for SAPs in identified proteins. Identification is
performed in two iterations. In the first iteration, pro-
tein identification involves using a protein database
containing one amino acid sequence of protein for
each protein-coding gene. Then, the second iteration
involves searching polymorphisms in preliminarily
identified proteins in open information sources.
METHODS
Mass spectra. Mass-spectrometric data for two pro-
teomic experiments were loaded in the mzData format
from the PRIDE database (www.ebi.ac.uk/pride/)
[10] (for accession numbers, see the table). The first of
the downloaded data sets refers to the HUPO Plasma
Proteome Project. We used the results of an experi-
ment in which the fraction of major blood plasma pro-
teins was removed on an immunoaffinity column,
after which the proteins were further fractionated
using a solid-phase sorbent specific for cysteine-con-
taining peptides and N-glycopeptides. Data of this
experiment included two mass spectra files (accession
numbers 8275 and 8277 in the table), which were
obtained by fragmentation of peptide ions using an
Identification of Single Amino Acid Polymorphisms
in MS/MS Spectra of Peptides
A. L. Chernobrovkin
a
, V. A. Mitkevich
b
, I. A. Popov
b
, M. I. Indeikina
b
,
E. V. Ilgisonis
b
, A. V. Lisitsa
a
, and A. I. Archakov
a
Presented by Academician A.A. Makarov November 12, 2010
Received November 12, 2010
DOI: 10.1134/S1607672911020098
a
Orekhovich Institute of Biomedical Chemistry,
Russian Academy of Medical Sciences,
Pogodinskaya ul. 10, Moscow, 119832 Russia
b
Engelhardt Institute of Molecular Biology,
Russian Academy of Sciences, ul. Vavilova 32,
Moscow, 119991 Russia
BIOCHEMISTRY, BIOPHYSICS
AND MOLECULAR BIOLOGY