An insight into the abundant proteome of 46BR.1G1 fibroblasts deficient of DNA ligase I.
This work presents the proteome profile of cultured human skin fibroblasts established from a patient affected by DNA ligase I (Lig I) deficiency syndrome, a rare disorder characterized by immunodeficiency, growth retardation and sun sensitivity. 2-DE (in the 3-10 and 4-7 pH ranges) was the separation technique used for the production of maps. MALDI-TOF/MS and LC-MS/MS were the mass spectrometry platforms applied for the identification of proteins in gel spots. A total of 154 proteins, including 41 never detected before in skin fibroblasts with this approach, were identified in gel spots analyzed. This newly generated extensive database provides for the first time a global picture of abundant proteins in 46BR.1G1 skin fibroblasts. While being relevant to the particular disorder considered, these results may be regarded as an intriguing starting point on the way to achieve a reference map of the proteins highly expressed in an inherited syndrome with defect in DNA replication and repair pathways.
Department of Biochemistry A. Castellani, University of Pavia, Pavia, Italy.
Serena
S
Giuliano
Paolo
P
Iadarola
Valentina
V
Leva
Alessandra
A
Montecucco
Serena
S
Camerini
Marco
M
Crescenzi
Roberta
R
Salvini
Anna
A
Bardoni
D002461:Cell Line, Transformed; D002853:Chromatography, Liquid; D003598:Cytoskeletal Proteins / Q000032:analysis / Q000737:chemistry; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000172:deficiency*; D015180:Electrophoresis, Gel, Two-Dimensional; D005347:Fibroblasts / Q000378:metabolism*; D034441:Heterogeneous-Nuclear Ribonucleoproteins / Q000032:analysis / Q000737:chemistry; D006801:Humans; D006863:Hydrogen-Ion Concentration; D017510:Protein Folding; D011506:Proteins / Q000032:analysis / Q000737:chemistry / Q000145:classification; D020543:Proteome / Q000032:analysis* / Q000737:chemistry; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D053719:Tandem Mass Spectrometry
D003598:Cytoskeletal Proteins; D034441:Heterogeneous-Nuclear Ribonucleoproteins; C000607892:LIG1 protein, human; D011506:Proteins; D020543:Proteome; D011088:DNA Ligases; D000072481:DNA Ligase ATP