Good Genes (Exam 2) Pt. 3 Flashcards Preview

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Flashcards in Good Genes (Exam 2) Pt. 3 Deck (25):
1

CELSR1

Involved in the planar cell polarity pathway

2

GPC5

Glypican proteoglycan that holds in place signaling molecules like the hedgehogs

3

Why would  the transcription factors NKX2 through 8 be present in this list for potential cuases?

These transcription factors have varying implications since they regulate many genes.

4

Trio-Analysis

Checking for copy number variants in parents (who don't have the disease) and child (proband) who does have it (de novo).

5

Why do shunts makes it easier for infection to enter the cerebral system?

The blood brain barrier is set in place to prevent bacteria from having access to cerebral spinal fluid, but shunt makes this barrier ineffective allowing for entrace into brain.

6

Why are hedgehogs involved in spina bifida?

Notochord signals the ectoderm to form a neural plate through morphogenetic factors; hedgehog is a morphogenetic factor.

7

In situ Hybridization

Making an antisense (like morpholino but long) that is marked with a label to visualize where the mRNA is located; this is usually done in normal organism to determine the location of expression.

8

What role does the planar cell polarity pathway play in ectodermal cell of drosophilia?

Drosophilia has bristles pointed in one direction; this pathway ensures that these britles are on the correct direction.

9

NCAM1

Cell adhesion moleculej

10

PTCH1

Receptor for the hedgehog signaling pathway

11

MTHFR

Involved in folate metabolism

12

VANGL1

Involved in the planar cell polarity pathway

13

What are women with a predisposition to engender children with spina bifida given?

They are prescribed folic acid for the folate metabolism to prevent spina bifida.

14

SCRIB

Involved in the apico-basal polarity pathway

15

Why is the role of the planar cell polarity pathway important?

Want one side of the cell to be different from the other side of the cell, such as in neurons; allows sheets of cell to establish polarity. This pathway has been associated with epilepsy.

16

What are the model organisms that often used for mutation effect comparison?

Zenipus (frog)
Zebra Fish
Mice

17

PARD3

Involved in the apico-basal polarity pathway

18

Why is the planar cell polarity pathway importnat in spina bifida defects?

Have to polarize the cell correctly in order to form the tube correctly through proper subdivision.

19

Morpholinos

Commonly used in fish/frogs; DNA oligonucleotides that are chemically modified so that they are fairly rigid. The morpholino is antisense to the mRNA we want to target: it will inhibit translation of the mRNA.

Morpholino that inhibits by binding
Beginning of mRNA End of mRNA Between intron/exon (in pre mRNA).

20

What was unique about John Mellecamp's spina bifida?

The spina bifida occurred higher up than normally would appear; sealing did occur in the caudal region, but did not occur in the regions closer to the rostral pore.

21

NKX2 - 8

Homeobox-containing developmental regulator (transcription factor)

22

What is the role of apico-basal pathway?

Controls the polarity that is orthogonal to the planar polarity; usually the base of the cell is established next to base membrane.

23

Once we've knocked down a gene and verified that it produces the disease phenotype, how can further verify that this is the responsible gene?

We can known down the endogenous protein but add in an exogenous source of the chemical to see if the organism is rescued form the morpholino inhibition.

24

DVL1

Involved in the planar cell polarity pathway

25

What is the role of cell adhesion molecules?

They are responsible for allowing proper binding between cells: if the cells' cant properly bind together, then there will be dire consequences.