原创力文档quantitative proteomic analysis of amniocytes reveals potentially dysregulated molecular networks in down syndrome定量蛋白质组学分析amniocytes揭示潜在的分子网络在唐氏综合症特异表达.pdfVIP
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quantitative proteomic analysis of amniocytes reveals potentially dysregulated molecular networks in down syndrome定量蛋白质组学分析amniocytes揭示潜在的分子网络在唐氏综合症特异表达
Cho et al. Clinical Proteomics 2013, 10:2
/content/10/1/2 CLINICAL
PROTEOMICS
RESEARCH Open Access
Quantitative proteomic analysis of amniocytes
reveals potentially dysregulated molecular
networks in Down syndrome
1 2 1,2 2 1
Chan-Kyung J Cho , Andrei P Drabovich , George S Karagiannis , Eduardo Martínez-Morillo , Shawn Dason ,
Apostolos Dimitromanolakis2 and Eleftherios P Diamandis1,2,3,4*
Abstract
Background: Down syndrome (DS), caused by an extra copy of chromosome 21, affects 1 in 750 live births and is
characterized by cognitive impairment and a constellation of congenital defects. Currently, little is known about the
molecular pathogenesis and no direct genotype-phenotype relationship has yet been confirmed. Since DS
amniocytes are expected to have a distinct biological behaviour compared to normal amniocytes, we hypothesize
that relative quantification of proteins produced from trisomy and euploid (chromosomally normal) amniocytes will
reveal dysregulated molecular pathways.
Results: Chromosomally normal- and Trisomy 21-amniocytes were quantitatively analyzed by using Stable Isotope
Labeling of Amino acids in Cell culture and tandem mass spectrometry. A total of 4919 unique proteins were
identified from the supernatant and cell lysate proteome. More specifically, 4548 unique proteins were identified
from the lysate, and 91% of these proteins were quantified based on MS/MS spectra ratios of peptides containing
isotope-labeled amino acids. A total of 904 proteins showed significant differential e
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