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genetics concepts > Exam 2 proteins, genes, enzymes, etc > Flashcards

Exam 2 proteins, genes, enzymes, etc Flashcards

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Biology 101 flashcards
1
Q

what are the major roles of folic acid (vitamin B9)

A
  1. biosynthesis of thymidylate and the purine nucleic acid bases (dna synthesis)
  2. methylation of homocysteine to produce methionine
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2
Q

what does S-adenosyl methionine do?

A

most important carrier of methyl groups

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3
Q

what does thalidomide do?

A
  1. sedative
  2. alleviates morning sickness over the counter
  3. teratogen (produces defects in developing fetus)
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4
Q

what syndrome is associated with KIT gene

A

piebaldism

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5
Q

what syndrome is associated with RET gene?

A

waardenburg syndrome

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6
Q

what is HOXA11?

A

a member of the homeobox gene family that is associated with radioulnar synostosis and thrombocytopenia

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7
Q

what is hoxa 13

A

member of the homeobox gene family and is associated with hand foot genital syndrome

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8
Q

what is hoxd13

A

member of the homeobox gene family and associated with synpolydactily (webbing and digits duplication)

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9
Q

what is IDX1

A
  1. homeobox gene
  2. required for pancreas development
  3. mutations in humans can lead to diabetes type 1
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10
Q

what are hox genes usually associated with?

A

HOXA-HOXB clusters with rostral caudal axis establishment

HOXA HOXD clusters with limb development

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11
Q

what are PAX genes associated with?

A

9 transcription factors involved in cell fate determination, not in clusters

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12
Q

what are the 5 pax genes involved in diseases?

A

pax 2, 3, 6, 8, 9

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13
Q

what is the disease caused by pax 6 mutation?

A

aniridia, complete loss of the iris

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14
Q

what are FGF’s?

A

fibroblast growth factors

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15
Q

how many FGF encoding genes are there

A

23

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16
Q

how many FGFR encoding genes are there

A

4

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17
Q

what gene is associated with vitamin d resistant rickets

A

FGF23

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18
Q

FGFR1, FGFR 2 and 3 mutations lead to what?

A

there are 12 different syndromes they cause, examples are craniosytostoses, achondroplasia, and dwarfism

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19
Q

what are the 3 ligands associated with the sonic hedgehog pathway

A

SHH (sonic hedgehog) IHH (indian hedghog)

DHH (desert hedgehog)

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20
Q

what are the three general pieces to the sonic hedgehog pathway?

A

shh (ligand) binds to Ptc1 (receptor) and proteins relay signal to Gli3 activator to the nucleus

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21
Q

autosomal dominant mutation in what causes holoprosencephaly

A

SHH

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22
Q

IHH mutation causes what?

A

brachydactyl (short fingers) type 1

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23
Q

what is PAX3 mutation associated with?

A

heterochromism (different eyes), hearing loss and white forelock

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24
Q

what is type 2 of waardenburg sydnrome caused by?

A

MITF mutation

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25
Q

what is type IV waardenburg and hirschprung disease caused by?

A

SOX10 and END/EDNRB mutation

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26
Q

in what cases of mutations do you get both waardenburg and hirschprung?

A
  1. RET on chromosome 10
  2. EDNRB on chromosome 13
  3. SOX10 on chromosome 22
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27
Q

what are the genes involved with sex determination?

A

SRY presence means a Y chromosome pops up and male. DAX1 gene means female

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28
Q

what is the relationship between leydig cells, testosterone, and male determination?

A
  1. leydig cells make testosterone
  2. testosterone stimulates Wolffian duct
  3. wolffian duct forms male genitalia
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29
Q

what is the relationship between sertoli cells, AMH, and male determination

A
  1. sertoli cells make anti-mullerian hormone (AMH)
  2. amh shuts down mullerian duct
  3. shut down of mullerian duct
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30
Q

what role does androgen play in male determination?

A

binds to the promoters of male genitalia making genes

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31
Q

what would having 1 copy instead of 2 copies of Dax1 gene do?

A

turner syndrome, failure of ovary development

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32
Q

what would having too much dax1 by SRY do

A

klinefelter syndrome, small testes

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33
Q

what happens if SRY interacts with products of SF1, SOX9, and WT1 genes?

A

makes male gonads, male pseudohermaphroditism

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34
Q

what does WT1 mutation do?

A

causes denys-drash syndrome, renal disease and wilms tumor and 46, XY females

35
Q

what does Sox9 mutation do?

A

campomelic dysplasia, 46 XY female

36
Q

what does SF1 mutation do?

A

46 XY female

37
Q

what role does androgen receptor mutations play as it pertains to male pseudohermaphroditism?

A

produce androgen insensitivity so no male genitalia. SRY is expressed, produce amh so no ovaries. but by default external genitalia is formed by female type but testes stay hidden in abdomen

38
Q

how many chromosomes do mature eggs and sperm cells have?

A

haploid sets of 23 chromosomes

39
Q

how many chromosomes are in every human cell

A

46 chromosomes (23 pairs=diploid)

40
Q

what is trisomy 13 associated with

A

patau syndrome

41
Q

what is trisomy 18

A

edwards syndrome

42
Q

what is trisomy 21

A

down syndrome

43
Q

what are 3 parts of the triple test for risk assessing down syndrome prenatally

A

alpha fetoprotein (AFP) unconjugated estriol and chorionic gonadotropin

44
Q

how exactly does AFP help with testing for down syndrome

A

its made in the fetal liver and some escapes into the maternal circulation. if the level is lower than in normal pregnancy then its considered a warning sign bc fetuses with down syndrome tend to be a little smaller on average and have smaller placentas

45
Q

what is the APP

A

amyloid precursor protein, in 21q21, deposition of amyloid plaques of in alzheimers brains

46
Q

GATA1 gene is involved in what?

A

responsible for megakaryoblastic leukemia, always mutated in down syndromes with cancer but the gene itself is located on chromosome X

47
Q

be able to identify/recall some genes that when overexpressed may have input in down syndrome

A

-SOD1 -COL6A1 -ETS2 -CAF1A -cystation (beta) synthase (CBS) -DYRK -CRYA1 -IFNAR

48
Q

what is the short stature of turn syndrome caused by and how is it treated

A

caused by low dose of SHOX gene on the Xh chromosome. treated by growth hormone

49
Q

what is the treatment for no ovarian function in turner syndrome

A

estrogen-progesterone treatment

50
Q

where does robertsonian translocation only happen in?

A

only happens with chromosomes 13, 14, 15, 21 and 22 (rDNA carriers)

51
Q

what is c-myc gene

A

a locus controlling transcription of an immunoglobulin genes
leads to the overproduction of the Myc transcription factor
in lymphocytes and the development of a lymphoma.

52
Q

what is the candidate gene for wolf hirschhorn syndrome deletion

A

LETM1

53
Q

what are the candidate genes for cri du chat syndrome

A

telomerase, catenin CCNND2, semaphorin F

54
Q

what is the relevance of elastin gene in williams syndrome

A

as elastin gene is deleted, children have narrow arteries (vascular stenosis)

55
Q

what gene is associated with jacobsen syndrome

A

Fli-1 gene

56
Q

what gene is associated and when mutated produces symptoms similar to smith magenis syndrome

A

RAI1 gene

57
Q

what is signficant of genes between LCR1 and LCR2

A

most studied,
as 1/ 12 of 22q11 pats
have small deletion LCR1/2
and classical type of the disease

58
Q

what is HIRA

A

a transcription factor associated with 22q11 that has to do with development of limbs and cranium

59
Q

what is tbx1

A

transcription factor with 22q11 and has to do with aortic defect and thymus agenesis

60
Q

what is E2F6

A

a transcription factor associated with 22q11 and has to do with general cell proliferation

61
Q

what is GSCL

A

transcription factor with 22q11 that has to do with craniofacial development

62
Q

most patients of NBS have what leading to their mutation

A

homozygous for the founder mutation 657 del5 (NBS1 gene)

63
Q

what is ataxia telangiectasia (ATM) due to

A

homozygous point mutations in ATM gene

64
Q

60% of women with heterozygous what develop cancer by the age of 70

A

60% of women with the heterozygous ATM gene mutation develop cancer by the age of 70

65
Q

antibodies to what cause CREST syndrome

A

antibodies to centromeric proteins

66
Q

what role does telomerase play in cancer

A

its stringently repressed in normal human somatic tissues but reactivated in cancer

67
Q

mutations in what genes can cause HNPCC

A

MSH2 and MHL1

68
Q

what are the functions of oncogenes

A
  • accelerators of cell division
  • stop apoptosis
  • dominantly inherited (one defective allele can predispose the cell to tumor formation)
69
Q

tumor suppressors do what

A
  • inhibitors of cell division
  • help for apoptosis
  • recessive (Mutation in one allele predispose human to cancer, but do not cause it)
70
Q

what are the growth factors and growth factor receptors for oncogenes?

A

Growth factors: TGFa, EGF

Growth factor receptors: EGFR

71
Q

what are the signaling mediators for oncogenes

A

ras, src, akt

72
Q

what are the transcription factors for oncogenes

A

myc

73
Q

what are the cell cycle components for oncogenes

A

cyclin D1

74
Q

how is ras activated

A

from proto oncogene

  1. deletion or point mutation in coding sequence
  2. hyperactive protein made in normal amounts
  3. ras, colon carcinoma
75
Q

how is egfr activated

A

from proto oncogene

  1. gene amplification
  2. normal protein greatly overproduced
  3. egfr breast carcinoma
76
Q

how is myc activated

A

from proto oncogene

  1. chromosome rearrangement
  2. nearby regulatory dna sequence causes normal protein to be overproduced
  3. myc lymphoma
77
Q

how is bcr/abl/cml

A

from proto oncogene

  1. chromosome rearrangement
  2. fusion to actively transcribed gene greatly overproduces fusion protein; or fusion protein is hyperactive
  3. mcr, abl, cml
78
Q

what are some traits of tumor suppressor genes

A

If one copy is gone/mutated, second normal allele will function.
If both copies are gone/mutated, cancer can progress (two hit hypothesis).
Replace a single normal copy and cells return to normal (cell fusion assay).

79
Q

what is the function of rb1 gene

A

it is an inhibitor of a gene regulatory protein. when inhibited by cyclin d1-cdk4 complex then allow e2f to proceed

80
Q

what does e2f do?

A

when not inhibited by rb1, transcription of target genes that control entry into S phase

81
Q

what are some pro angiogenic factors

A

VEGF, FGFs, IL-8, prostaglandins

82
Q

what are MMPs

A

matrix degradation enzymes, promote detachment of tumor cells from neighboring cells

83
Q

what helps promote detachment of tumor cells from neighboring cells

A

mmps and other proteases

84
Q

what inhibits detachment of tumor cells from neighboring cells

A

protease inhibitors and intercellular adhesion
molecules
(cadherins, integrins etc

genetics concepts (13 decks)

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