Chromosomal Fragile Sites in Metabolic Diseases inc Cancer Flashcards Preview

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Flashcards in Chromosomal Fragile Sites in Metabolic Diseases inc Cancer Deck (25):
1

Define chromosomal fragile sites.

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2

What are some examples of CFS?

- FRA7H.
- FRA3B.
- FRA16D.

3

Fragile Site Classification with examples.

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4

What are the differences between rare and common fragile sites?

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5

What is aphidicolin?

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6

Abstract of J.J Yunis and A.L Soreng (1984).

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7

What chromosome has the most common fragile sites?

- 3.

8

What are the in vitro causes of DNA breakage at chromosomal fragile sites?

Yunis and Soreng, 1984.

9

What are the in vivo causes of DNA breakage at chromosomal fragile sites?

Coquelle et al., 1998 and Yunis Soreng, 1984.

10

In regards to FRA3B, what is the molecular basis and relationship to chromosomal instability in Cancer cells

- FHIT.

11

In regards to FRA6E, what is the molecular basis and relationship to chromosomal instability in Cancer cells

- Parkin Gene.
- Neurodegeneration.

12

Define PINK1

PTEN-induced putative kinase 1 (PINK1) is a mitochondrial serine/threonine-protein kinase encoded by the PINK1 gene. It is thought to protect cells from stress-induced mitochondrial dysfunction. PINK1 activity causes the parkin protein to bind to depolarized mitochondria to induce autophagy of those mitochondria.

13

What is the function of WWOX?

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14

What is the possible role of WWOX in cancer?

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15

Alt spliced WWOX is an abundant transcript in 50% of breast cancer samples and cell lines.
True or False?

True.
Driouch et al. 2002.

16

What is genetic variation in WWOX associated with?

- Heart,
- Lung,
- Systemic.

17

What does inherited homozygous LOF WWOX mutations cause?

- Severe CNS Pathology.

18

What is WWOX TS essential for?
Aqeilan et al. 2008.

Post-natal survival and normal bone metabolism.

19

What does O'keefe et al, 2011 say?

WWOX TS has a role in aerobic metabolism and regulates reactive oxygen species.

20

What has functional interactions with WWOX and what correlates with WWOX levels?

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21

What is the Warburg effect?

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22

What are other roles for fragile sites in chromosomal instability?

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23

What does HSR stand for?

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24

What is one reason why cancer can develop resistance to drugs?

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25

Breakage-fusion-bridge model of intrachromosomal DNA amplification.

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