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Carla Tribioli

IGM-CNR, Via Abbiategrasso, 207 - 27100 Pavia, Italy

phone: +39-0382-546342
fax: +39-0382-422286



Senior scientist (level I), CNR

Laboratory head


Research Projects

       My laboratory at the Institute of Molecular Genetics (IGM), CNR was set up in 1998 thanks to a grant from Telethon. The lab was based on a know-how I acquired in New York at the Memorial Sloan Kettering and at the Mount Sinai Medical Centre, working on animal model systems of human genetic diseases. This new line of research at the IGM complemented the in vitro approaches with in vivo studies.

      Several research projects in my laboratory use the transgenic mouse system as a genetic approach to study at the molecular level the pathogenic mechanisms causing or predisposing to human diseases. The first project focuses on the molecular mechanisms controlling the early embryonic events of skeletal development. Failure of these mechanisms leads to cartilage and bone defects. We have employed a loss-of-function mutant analysis and a gain-of-function approach to explore the function of Bapx1 gene in embryonic control of development. Bapx1 is a transcription factor of the homeobox type. We found that mice lacking Bapx1 are asplenic. Furthermore, in Bapx1 -/- mutant embryos, the perinothocordal mesenchymal cells fail to differentiate along the chondrocytic pathway. As a result, these embryos are affected by a perinatal lethal skeletal dysplasia with defects in the vertebral column and the skull but have a normal limb skeleton. Limb defects appear in mice over expressing Bapx1 in the developing limb. These mice are affected by preaxial polydactyly, which is caused by altered anteroposterior patterning of the limb, marked by anterior ectopic expression of Hand2 and Shh signaling. We have determined that, reciprocally, Shh gain-of-function activity in mouse embryos induces polydactyly, with ectopic extension of Bapx1 expression in the anterior part of developing limb. We also have observed that Shh is required for normal Bapx1 expression. Taken together, our results suggest that Bapx1 and Shh are able to reciprocally influence one other expression.

       The aim of a second project is to investigate in mammals the role of a human member of the fork head/Winged Helix family of transcription factors, termed CHES1 (checkpoint suppressor 1), that acts as a checkpoint mutation suppressor gene by restoring the normal cell cycle arrest in G2 after UV irradiation or other DNA damage, in yeast strain deficient in mec1, rad9, rad24, rad53, and dun1 checkpoint genes. CHES1 gene encodes a protein which has significant homology to HTLF (human T-cell leukemia enhancer factor) and FKHR (Forkhead in rhabdomyosarcoma). We have characterized the murine homolog Ches1 gene by developmental expression studies. We found that Ches1 is expressed in craniofacial, limb, CNS and somitic tissues of mouse embryos from E9.5-E12.5. Its expression pattern suggests that it can play multiple independent roles during gestation. Currently we are generating Ches1 mutant mice.

      More recently we have focused on the analysis of how polymorphism and mutations of the ApoA-I and ApoA-II genes can cause amyloidosis. We have characterized a mouse line carrying a polymorphism of the mouse ApoA-II gene, which develops spontaneous senile amyloidosis. Currently we are focusing on the generation of genetically modified mouse lines carrying human ApoA-I amyloidogenic mutations.


Relevant Experience

Mouse Genetics; Molecular Embriology; Genomics; Cancer Genetics; Human genetics; Molecualr Biology; Yeast Genetics



  • 2007-present: RSTL, CNR; Panel: Biology
  • 2006: Grant of Sigma-Tau Pharmaceutical Company
  • 2001-2004: Telethon Grant N. GP0283Y01
  • 1998-2000: Telethon Grant N. D075
  • 1997-1999:  NIH Grant N. 1 R03 AR45035-01, Project N. 97-180 MO




Selected Publications

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