Proteomics

Dataset Information

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Whole proteome analysis of leukocytes isolated from peripheral blood of patients with sex determination defects and germ cell tumors, occurred in Swyer and CAIS.


ABSTRACT: The ability to transmit genetic information through generations depends on preservation of genome integrity. Genetic abnormalities affect cell differentiation, causing tissue specification defects and cancer. We addressed genomic instability in individuals with Differences of Sex Development (DSD), characterized by gonadal dysgenesis, sex reversal, infertility, high susceptibility for different types of cancer, especially Germ Cell Tumors (GCT), and in men with testicular GCTs. We analyzed the whole proteome of leukocytes and confirmed it with immunoblotting and quantitative PCR analysis. Additional data from tissue biopsies strengthen our observations in peripheral blood. In particular, the analysis of leukocytes and dysgenic gonads uncovered DNA damage phenotypes, supported by changes in DNA damage response mechanisms: altered autophagy and innate immune response, suppressed TP53-dependent DNA repair.

INSTRUMENT(S): Q Exactive HF

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Leukocyte

SUBMITTER: Marcin Luzarowski  

LAB HEAD: Maria Krivega

PROVIDER: PXD033635 | Pride | 2023-07-20

REPOSITORIES: Pride

Dataset's files

Source:
Action DRS
Q25070-22-2-01.raw Raw
Q25070-22-2-02.raw Raw
Q25070-22-2-03.raw Raw
Q25070-22-2-04.raw Raw
Q25070-22-2-05.raw Raw
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Publications

Genomic instability in individuals with sex determination defects and germ cell cancer.

Krivega Maria M   Zimmer Jutta J   Slezko Anna A   Frank-Herrmann Petra P   Rehnitz Julia J   Hohenfellner Markus M   Bettendorf Markus M   Luzarowski Marcin M   Strowitzki Thomas T  

Cell death discovery 20230523 1


The ability to transmit genetic information through generations depends on the preservation of genome integrity. Genetic abnormalities affect cell differentiation, causing tissue specification defects and cancer. We addressed genomic instability in individuals with Differences of Sex Development (DSD), characterized by gonadal dysgenesis, infertility, high susceptibility for different types of cancer, especially Germ Cell Tumors (GCT), and in men with testicular GCTs. Whole proteome analysis of  ...[more]

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