🧬 FANCONI ANEMIA MOLECULAR PATHWAY for DNA 🧬 Damage Repair | PRE 2017 INSIGHTS

Описание к видео 🧬 FANCONI ANEMIA MOLECULAR PATHWAY for DNA 🧬 Damage Repair | PRE 2017 INSIGHTS

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The Fanconi Anemia pathway comprises 23 genes and their protein products that contribute to repairing DNA when it is damaged. It also assists during DNA replication, transcription and in other cellular processes.

The 23 genes and proteins cooperate to remove interstrand crosslinks that are caused by either external or internal factors. In this way , the Fanconi Anemia pathway contributes to maintaining genomic integrity.

If both copies of any one of the Fanconi Anemia pathway genes inherited from mum and dad contain a mutation, then Fanconi Anemia (FA) disorder manifests.

FA disorder is characterised by bone marrow failure and early onset cancers. It is diagnosed by exaggerated chromosome breakage in response to DNA cross linking agents such as mitomycin C (MMC) or diepoxybutane (DEB).

In ~85% of FA patients, there is a mutation in either FANCA, FANCG or FANCC which stops the FA pathway from functioning. FANCD1, FANCD2, FANCE, FANCF and FANCL mutations are seen in 10% of FA individuals.

Loss of FA pathway utility results in stalled replication forks, culminating in stalled DNA replication. The consequences are premature cell death or uncontrolled cell growth due to lack of regulation of DNA replication.

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This video is about DNA damage types, DNA repair, DNA binding proteins, DNA replication, DNA damage and repair, Fanconi anemia, Fanconi anemia pathway, Fanconi anemia stories, DNA replication, DNA binding proteins, Fanconi hypoplastic anemia,
Fanconi pancytopenia, Fanconi panmyelopathy

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