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GBA Genetics > Genetics In Biological Processes > Flashcards

Genetics In Biological Processes Flashcards

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Biology 101 flashcards
1
Q

Genetics of biological processes can be divided into 3 main categories:

A
  1. Developmental genetics (including genetics of sex)
  2. Oncogenetics
  3. Immunogenetics
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2
Q

Developmental Genetics:

What us a Totipotent cell?

A

Totipotent cell (e.g. fertilized egg): can become any cell and construct a viable organism

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3
Q

Developmental Genetics:

What us a Pluripotent cell?

A

Pluripotent cell (e.g. inner cell mass, epiblast): can become almost any cell type

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4
Q

Developmental Genetics:

What us a Multipotent cell?

A

Multipotent cell (embryonic endo / meso / ectoderm): can become some cell type (from germ layers)

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5
Q

The use of stem cells (cultured pluripotent cells) can be applied to:

A

− Drug development and toxicity test
− Experiments to study development and gene control
− Tissue / cell therapy (e.g. nerve cells, heart cells, pancreatic 􀁅-cells)

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6
Q

What are *iPS (induced Pluripotent Stem) Cells?

A

iPS (induced Pluripotent Stem) Cells: production of pluripotent stem cells from a donor which is undergo
cell programming for stem cell therapy (e.g. nerve cells, heart cells, pancreatic 􀁅-cells)

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7
Q

Stem Cell Fate:

What are the intrinsic factors the Lineage is influenced by?

A

− Asymmetric division

− Uneven distribution of receptors, transcription factors

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8
Q

Stem Cell Fate:

What are the extrinsic factors the Positional identity is influenced by?

A

− Morphogens
− Cell-cell interactions
− Cell-matrix interactions

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9
Q

What is a Morphogen?

A

Morphogen: soluble signaling molecule with concentration gradient in eggs or developing embryos.
Act differently on the same target cell type, depending on their location.

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10
Q

What are examples for morphogens?

A
  • Activin (TGFbeta)
  • Sonic Hedgehog
  • Retinoic Acid
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11
Q

Sex Determination Genes:

SRY - Is it anti-Testis or anti-Ovary?

A

SRY - Anti-Ovary gene.

aka Sex-determining Region of the Y chromosome

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12
Q

Sex Determination Genes:

RSPO1 - Is it anti-Testis or anti-Ovary?

A

RSPO1 - anti-Testis

R-spondin1, on chromosome 1

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13
Q

Sex Determination Genes:

WNT4 - Is it anti-Testis or anti-Ovary?

A

WNT4 - anti-Testis

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14
Q

Sex Determination Genes:

SOX9 - Is it anti-Testis or anti-Ovary?

A

SOX9 - anti-Ovary

found on chromosome 17

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15
Q

Sex Determination Genes:

Beta-catenin - Is it anti-Testis or anti-Ovary?

A

Beta-catenin - anti-Testis

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16
Q

Sex Determination Genes:

FOXL2 - Is it anti-Testis or anti-Ovary?

A

FOXL2 - anti-Testis

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17
Q

Sex Determination Genes:

DAX1 - Is it anti-Testis or anti-Ovary?

A

DAX1 - anti-Testis

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18
Q

Sex Determination Genes:

CBX2 - Is it anti-Testis or anti-Ovary?

A

CBX2 - anti-Ovary

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19
Q

Sex Determination Genes:

MAP3K4 - Is it anti-Testis or anti-Ovary?

A

MAP3K4 - anti-Ovary

20
Q

Abnormalities of Sexual Development:

abnormal crossing-over during male gametogenesis (meiosis I) results in either 2 possibilities - what are those?

A

Abnormal crossing-over during male gametogenesis (meiosis I) results in:

  • 46 chromosomes XX Male (SRY transfer to X)
  • 46 chromosomes XY Female (SRY loss in Y)
21
Q

Abnormalities of Sexual Development:

What is the Androgen Insensitivity syndrome?

A

Androgen Insensitivity syndrome: Testosterone receptor mutation, XR.
Female features in XY genotype causes Infertility

22
Q

Abnormalities of Sexual Development:

What is the Kallmann syndrome?

A

Kallmann syndrome: Mutations in KAL1 gene, Chromosome X (PAR1). Cell adhesion protein deficit, lack of migration leading to loss of smell sense with NO GHRH - failure in gonadal differentiation.

23
Q

Abnormalities of Sexual Development:

What are PAR1 and PAR2?

A

PAR1 and PAR2
Pseudoautosomal Region of X chromosome. short regions of homology between the mammalian X and Y chromosomes. (Recombine like autosomal).

24
Q

Oncogenetics:

What percentage of Tumors arise in a pattern of Mendelian inheritance? (rest being complex trait)

A

Tumors with Mendelian inheritance - Less than 10%

25
Q

Oncogenetics:

Majority of cancers are caused by mutations in SOMATIC/GAMETES cells?

A

Somatic cells

26
Q

Oncogenetics:

What are Driver mutations?

A

Driver mutation: confers a selective growth advantage.

Responsible for growth of tumor and influence survivability of the tumor.

27
Q

Oncogenetics:

What are Passenger mutations?

A

Passenger mutation: has no effect on the fitness (i.e. survivability) of a clone.

28
Q

What are the 3 most commonly mutating driver genes of tumors?

A

Driver genes of tumors:

  • Oncogenes
  • Tumor Suppressor Genes
  • Mutator Genes
29
Q

The 2 most common mutations in tumors affect: (they occur in > 60% of all cancers)

A

most common mutations in tumors:
− The RAS oncogene
− The P53 tumor suppressor gene

30
Q

Gain-of-function mutation of a _____________ , which leads to an oncogene.

A

Gain-of-function mutation of a PROTO-ONCOGENE, which leads to an oncogene.

31
Q

Loss-of-function mutation of a ___ ________ gene.

A

Loss-of-function mutation of a TUMOR SUPPRESSOR gene.

32
Q

What is Loss of Imprinting (LOI)?

A

Loss of Imprinting (LOI): a case of genome hypomethylation, by which a gene is “reactivated”.
Loss of the original pattern of imprint, causes abnormal imprinting.

33
Q

What is Loss of Heterozygosity (LOH)?

A

Loss of Heterozygosity (LOH):
The loss of one allele of a genetic locus can have multiple possible functional effects including
haploinsufficiency, loss of gene expression and being the second ‘hit’ that unmasks (Only) a recessive tumor
suppressor gene.

34
Q

Immunogenetics:

the heavy chain variable region has three domains - what are those?

A

V (variable), D (diversity) and J (joining)

35
Q

Immunogenetics:

the light chain variable region has 2 domains - what are those?

A

V (variable), and J (joining)

36
Q

Somatic Gene Rearrangement (or Somatic Recombination): When does this happens?

A

active only during the T-and B-cell

maturation

37
Q

Somatic Gene Rearrangement (or Somatic Recombination):

What are the enzymes responsible for DNA splicing? What is the result?

A

RAG1/2 enzymes give a “mix” of different V-D-J.

38
Q

Somatic Gene Rearrangement (or Somatic Recombination):

What is the result of mRNA splicing?

A

Further rearrangements of V-D-J and switch from the membrane-bound IgM C domain to the soluble IgM C domain.

39
Q

Somatic Gene Rearrangement (or Somatic Recombination):

What is the function of Tdt?

A

TdT (terminal deoxynucleotidyl transferase):
Recombination can be shifted (frame shift) a few
bases in 5’ to 3’ direction.

40
Q

Somatic Hypermutation:

What is it part of?

A

Affinity Maturation

41
Q

Somatic Hypermutation: What is it triggered by?

A

Activation induced cytidine deaminase (AID), which deaminates cytosine to uracil. This base mismatch, which not repaired by any mechanisms, can result in a number of different mutations.

42
Q

Somatic Hypermutation: Immunoglobulin Class Switching - How is it achieved?

A

DNA splicing (Third time in B cell maturation process)

43
Q

Immunogenetics - Role of Epigenetics:
Histone modifications and Subsequent chromatin remodeling create a so-called ___________ _____, thus the Ig or TCR regions become accessible by RAG recombinases.

A

Immunogenetics - Role of Epigenetics:
Histone modifications and Subsequent chromatin remodeling create a so-called RECOMBINATION CENTER, thus the Ig or TCR regions become accessible by RAG recombinases.

44
Q

Where frequency of Nondisjunction higher: Spermatogenesis/Oogenesis

A

Oogenesis

45
Q

Where frequency of Replication errors higher: Spermatogenesis/Oogenesis

A

Spermatogenesis

46
Q

Where frequency of Crossing over higher: Spermatogenesis/Oogenesis

A

Oogenesis

GBA Genetics (16 decks)

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