Silva, Nicola
(2009)
Functional characterization of the Caenorhabditis elegans gene fcd-2 during meiosis and in maintenance of genomic stability.
[Tesi di dottorato]
(Unpublished)
| Item Type: |
Tesi di dottorato
|
| Lingua: |
English |
| Title: |
Functional characterization of the Caenorhabditis elegans gene fcd-2 during meiosis and in maintenance of genomic stability |
| Creators: |
| Creators | Email |
|---|
| Silva, Nicola | nicola.silva78@gmail.com |
|
| Date: |
27 November 2009 |
| Number of Pages: |
76 |
| Institution: |
Università degli Studi di Napoli Federico II |
| Istituzioni (extra): |
CNR. Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso" |
| Department: |
Biochimica e biotecnologie mediche |
| Scuola di dottorato: |
Medicina molecolare |
| Dottorato: |
Genetica e medicina molecolare |
| Ciclo di dottorato: |
22 |
| Coordinatore del Corso di dottorato: |
| nome | email |
|---|
| Di Lauro, Roberto | dilauro@szn.it |
|
| Tutor: |
| nome | email |
|---|
| La Mantia, Girolama | lamantia@unina.it |
|
| Date: |
27 November 2009 |
| Number of Pages: |
76 |
| Uncontrolled Keywords: |
Fanconi anemia, genomic stability, C. elegans |
| Settori scientifico-disciplinari del MIUR: |
Area 05 - Scienze biologiche > BIO/18 - Genetica |
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| Date Deposited: |
19 May 2010 13:51 |
| Last Modified: |
21 Jan 2015 11:34 |
| URI: |
http://www.fedoa.unina.it/id/eprint/3822 |
| DOI: |
10.6092/UNINA/FEDOA/3822 |
Abstract
Fanconi anemia (FA) is a complex cancer susceptibility disorder associated with defects in the repair of DNA interstrand cross-links (ICLs) resulting in occasional developmental defects and in ICL hypersensitivity of patient cells, yet the precise role of the FA proteins during DNA repair has remained unclear. I will present evidence that FA counteracts illegitimate repair of DNA lesions by non-homologous end joining (NHEJ). FCD-2 has proven to be involved in the choice of repair pathways: 1) fcd-2 mutants show an increase in spo-11 dependent RAD-51 foci and in germline apoptosis, 2) in genetic backgrounds where chiasma formation is abrogated (such as msh-4 and syp-2) resolves in less than the expected 12 DAPI stained bodies at diakinesis, such bodies are the results of chromosome fusions also involving non-homologous chromosomes (as demonstrated by FISH), 4) in the contemporary absence of FCD-2 protein, crossovers and NHEJ (i.e. in the triple mutants fcd-2; syp-2;lig-4 and fcd-2; msh-4;lig-4) we observe more than 12 DAPI stained bodies at diakinesis, a phenotype reminiscent of what observed in brc-1;syp-2 and brc-1;msh-4 double mutants (brc-1 being the ortholog of human BRCA1, see Adamo et al. 2008 enclosed). Furthermore, other fcd-2 mutant phenotypes such as interstrand cross-linking sensitivity and hypermutation are due to promiscuous use of NHEJ.
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