Fanconi Anemia Anthony Winchell. What is Fanconi Anemia?

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Presentation transcript:

Fanconi Anemia Anthony Winchell

What is Fanconi Anemia?

What is the Fanconi Anemia pathway?

What is Fanconi Anemia Complementation Group L?

What role does FANCL play? Cellular Components Fanconi Anemia nuclear complex Cellular Components Fanconi Anemia nuclear complex Molecular Function Ubiquitin-protein transferase activity Molecular Function Ubiquitin-protein transferase activity Biological Processes Protein ubiquitination DNA Repair Biological Processes Protein ubiquitination DNA Repair

How well conserved is FANCL?

Knowledge Gap : Why do FANCL-caused FA patients have such varying phenotypes? Understand how different mutations affect phenotype and ID complex ubiquitination.

Hypothesis Mutations occurring in the WD40 domain will have a greater effect on phenotype than mutations to the RING finger domain.

Aim I Aim II Aim III Identify binding partners of FANCL that have a role in skin pigmentation

Aim I: Approach Find binding partners in STRING related to skin pigmentation Utilize the CRISPER/Cas9 system to mutate these genes to confirm

Aim I: Results kita identified as key pigmentation gene Mills et al., Deconstructing evolution of adult phenotypes: genetic analyses of kit reveal homology and evolutionary novelty during adult pigment pattern development of Danio fishes. Development 134(6): FA Complex Transcription Factors BF: pigmentation Neurofibromatotis Type I

Aim II Aim I Aim III Determine which domain plays a more prominent role in pigmentation

Aim II: Approach Identify conserved regions in the WD40 and RING domains. Utilize the CRISPER/Cas9 system to induce site specific mutations WD-Repeat Domain RING Domain

Aim II: Expected Results WD40-mutant transgenic lines will have more mutant Zebrafish

Aim III Aim II Aim I Quantify the level of ubiquitination in each transgenic line

Aim III: Approach Utilize quantitative mass spec to quantify levels of ubiquitination

Aim III: Expected Results WD40-mutant transgenic lines will have reduced ubiquitination

Future Directions Binding between core complex proteins Relationship between FA, KIT, and pigmentation

Questions?