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2022 REI Written Boards > Genes to Know > Flashcards

Genes to Know Flashcards

1
Q

6 important genes for male sexual differentiation

A

SRY, SF-1, SOX-9, WT-1, GATA-4, FGF-9

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2
Q

SRY location

A

Distal p-arm of Y (adjacent to psuedoautosomal region)

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3
Q

SRY function

A

Activates genes that promote testis development

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4
Q

SRY associated pathology

A

• XY: Pure gonadal dysgenesis (Swyer syndrome); female phenotype • XX+SRY: XX testicular or ovotesticular DSD (de la Chapelle syndrome)

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5
Q

SRY stands for:

A

Sex-determining Region Y chromosome

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6
Q

SF-1 stand for:

A

Steroidogenic factor 1, a nuclear “orphan receptor”

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7
Q

SF-1 gene & location

A

Encoded by NR5A1 gene (q-arm of chromosome 9)

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8
Q

SF-1 function

A

Binds and activates the SRY promoter

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9
Q

SF-1 associated pathology

A

Gain-of-function mutations that cause inappropriate activation of testicular pathways in the XX gonad; described in ~10-20% of XX testicular or ovotesticular DSD cases

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10
Q

SOX-9 location

A

“gene desert on 17q24”

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11
Q

SOX-9 function

A

Encodes a transcription factor that functions downstream of SRY and is both necessary and sufficient for testicular development; “SOX-9 is the most likely SRY target gene; virtually all male-female sex reversal can be explained by failure to generate sufficient levels of SOX-9 to promote positive feedback loops”

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12
Q

SOX-9 associated pathology

A

Deficiency -> skeletal malformation syndrome campomelic dysplasia, cleft palate, and autosomal sex reversal (in XY: pure gonadal dysgenesis, female phenotype)

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13
Q

WT-1 stands for:

A

Wilms’ tumor protein

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14
Q

WT-1 location

A

Encoded by the WT1 gene on chromosome 11p

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15
Q

WT-1 function

A

Transcription factors that can activate promoter of SRY

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16
Q

WT-1 associated pathology

A

Denys–Drash syndrome (DDS) characterized by gonadal dysgenesis, nephropathy, and Wilms’ tumor vs Frasier syndrome = gonadoblastoma, instead of Wilms’ tumor

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17
Q

GATA-4 location

A

P-arm of chromosome 8

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18
Q

GATA-4 function

A

Synergizes with WT-1; transcription factors that can activate promoter of SRY

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19
Q

GATA-4 associated pathology

A

In mice, mutation leads to a block in testis development and a down-regulation of SRY

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20
Q

FGF-9 stands for:

A

Fibroblast growth factor

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21
Q

FGF-9 location

A

Q-arm chromosome 13

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22
Q

FGF-9 function

A

Once activated by SOX9, it is responsible for forming a feedforward loop with Sox9, increasing the levels of both genes. It forms a positive feedback loop upregulating SOX9, while simultaneously inactivating the female Wnt4 signaling pathway

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23
Q

FGF-9 associated pathology

A

Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype

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24
Q

3 important genes for female sexual differentiation

A

DAX-1, WNT-4, RSPO-1

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25
Q

DAX-1 stands for:

A

Dosage sensitive adrenal hypoplasia

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26
Q

DAX-1 gene & location

A

Encoded by the NR0B1 gene; p-arm of X chromosome

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27
Q

DAX-1 function

A

DAX1 -> antagonizes SF1 -> SF1 and SOX9 off -> inhibition of male pathway and WNT 4 activation (expressed only in XX gonads); induces ovarian development

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28
Q

DAX-1 associated pathology

A

• Duplications (gain-of-function) cause gonadal dysgenesis (inhibiting activity of NR5A1/SF1) • Loss-of-function: • X-linked adrenal hypoplasia/insufficiency (males) • Hypogonadotropic hypogonadism; delayed puberty (females)

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29
Q

WNT-4 stands for:

A

Wingless family of genes

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30
Q

WNT-4 location

A

P-arm of chromosome 1

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31
Q

WNT-4 function

A

Required for female sex development; absence required for male sexual development

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32
Q

WNT-4 associated pathology

A

• Deficiency: androgen excess, no uterus • Loss-of-function: autosomal recessive SERKAL syndrome (sex reversal with dysgenesis of kidneys, adrenals, and lungs)

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33
Q

RSPO-1 stands for:

A

R-spondin 1

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34
Q

RSPO-1 location

A

P-arm of chromosome 1

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35
Q

RSPO-1 function

A

Interacts with WNT4 in female sexual development

36
Q

RSPO-1 associated pathology

A

Loss-of-function -> AR testicular or ovotesticular DSD + palmoplantar hyperkeratosis

37
Q

5 important genes for folliculogenesis

A

FOXL-2, BMP-15, GDF-9, C-kit, Neurotrophins

38
Q

FOXL-2 stands for:

A

Forkhead box protein L2

39
Q

FOXL-2 location

A

Q-arm chromosome 3

40
Q

FOXL-2 function

A

Essential for granulosa cell differentiation (GCs never change to a cuboidal shape)

41
Q

FOXL-2 associated pathology

A

Causes blepharophimosis/ptosis/epicanthus-inversus syndrome; affects eyelid and causes premature ovarian failure

42
Q

BMP-15 stands for:

A

Bone morphogenetic protein 15

43
Q

BMP-15 location

A

P-arm of X chromosome

44
Q

BMP-15 function

A

• Promotion of growth and maturation of ovarian follicles, starting from the primary follicle • Regulates sensitivity of GCs to FSH (contributes to determining how many eggs are ovulated) • Prevention of GC apoptosis • Promotes developmental competence of oocytes

45
Q

BMP-15 associated pathology

A

Mutations have been identified in a small number of women with idiopathic POI

46
Q

GDF-9 stands for:

A

Growth/differentiation factor 0

47
Q

GDF-9 location

A

Q-arm of chromosome 5

48
Q

GDF-9 function

A

Signals via serine-threonine kinase receptors, produced by oocytes in primary and larger follicles to stimulate glycolysis, amino acid transport, and cholesterol synthesis in granulosa cells

(absent in primordial follicles)

49
Q

GDF-9 associated pathology

A

Mutation in mice prevents follicle development beyond primary stage and absence of thecal markers, and eventual oocyte death

50
Q

C-kit stands for:

A

Kit-ligand

51
Q

C-kit location

A

Q-arm chromosome 12

52
Q

C-kit function

A

Expressed on GCs of growing follicles; primordial germ cells survival during migration to gonads

53
Q

C-kit associated pathology

A

Mutations lead to failure of follicular growth beyond primary stage

54
Q

Neurotrophins involved in folliculogenesis (5)

A

NGF, BDNF, NT-3, neurotrophin 4/5

55
Q

Neurotrophin function

A

Exert their actions via binding to high affinity trans membrane tyrosine kinase receptors. Promote early proliferation of ovarian mesenchymal cells during early follicular assembly.

56
Q

What does SHOX stand for?

A

Short stature homeobox-containing gene

57
Q

Where is SHOX located?

A

Pseudoautosomal region (PAR1) of the X chromosome (Xp22.33) and Y chromosome

58
Q

What does SHOX gene do?

A

Homeobox gene - helps to regulate development

59
Q

What does a mutation in SHOX gene cause?

A

Haploinsufficiency (due to single X chromosome) = cause of short stature in women with Turner’s

Extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome aneuploidy conditions such as triple X, XYY, Klinefelter

60
Q

Where is KAL-1 located?

A

p-arm of X chromosome; encodes Anosmin 1 protein

61
Q

What is the function of KAL-1?

A

Part of fibronectin family, responsible for cell adhesion and protease inhibition

62
Q

What is the associated pathology of KAL-1?

A

X-linked Kallman’s syndrome (failure of olfactory and GnRH neuronal migration)

63
Q

Where is FGFR1 (KAL-2) located?

A

p-arm of chromosome 8

64
Q

What is the funciton of FGFR1 (KAL-2)?

A

Essential for development and organization of mesoderm-derived tissues and MSK system

65
Q

What is the pathology associated with FGFR1 (KAL-2)?

A

Associated Pathology: Autosomal dominant Kallman’s syndrome (~10% of Kallman’s cases)

66
Q

Where is PROK2 (KAL-4)/prokineticin-2 located?

A

p-arm of chromosome 3

67
Q

What is the function of PROK2 (KAL-4) (prokineticin-2)?

A

Important for neurogenesis

68
Q

What is the pathology associated with PROK2 (KAL-4) (prokineticin-2)?

A

Autosomal recessive Kallman’s syndrome; can be normosmic or anosmic

69
Q

Where is FMR-1 (fragile X mental retardation 1) located?

A

q-arm of X chromosome (terminal end)

70
Q

What is the function of FMR-1 (fragile X mental retardation 1)?

A

Essential for normal cognitive development and female reproductive function

71
Q

What is the associated pathology with FMR-1 (fragile X mental retardation 1)?

A

Associated Pathology: >200 CGG repeats -> POI vs Fragile-X associated tremor/ataxia (men after 50)

72
Q

Where is AZF located?

A

q-arm of Y chromosome

73
Q

What is the function of AZF?

A

Involved in spermatogenesis

74
Q

What pathology is associated with AZF?

A

Deletions in the AZF (azospermia factor) A (“awful”) or B (“bad”) typically result in azoospermia

Deletions in AZF C region cause infertility of varying severity, ranging from oligospermia to azoospermia

25% have small testicular volume

75
Q

Where is KISS1R (kisspeptin) located?

A

q-arm of chromosome 1

76
Q

What is the pathology associated with KISS1R (kisspeptin)?

A

Associated Pathology: Gain-of-function mutation in KISS1 (or receptor KISS1-R) -> precocious puberty; loss-of-function mutation -> hypo-hypo

77
Q

What is the function of KISS1R (kisspeptin)?

A

Initiating secretion of GnRH at puberty

78
Q

Where is PIT-1 (Pituitary-specific positive transcription factor 1) located?

A

p-arm chromosome 3

79
Q

Where is GNAS (Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide) located?

A

q-arm chromosome 20

80
Q

What is the function of GNAS (Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide)?

A

Somatic mutation of the alpha subunit of the Gs protein (GNAS) activates adenylyl cyclase -> constitutively active adenylate cyclase converting ATP to cAMP -> activation of protein kinase A

81
Q

What is the associated pathology with GNAS (Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide)?

A

Associated Pathology: McCune-Albright Syndrome - triad of peripheral precocious puberty, irregular café-au-lait (“coast of Maine”) skin pigmentation, and fibrous dysplasia of bone

82
Q

What is the function of PIT-1 (Pituitary-specific positive transcription factor 1)?

A

Transcription factor necessary for growth and differentiation of anterior pituitary cells; necessary for regulation of genes encoding PRL, GH, and TSH

83
Q

What is the pathology associated with PIT-1 (Pituitary-specific positive transcription factor 1)?

A

Associated Pathology: see PROP-1
From PROP-1: “Inactivating mutation -> deficiencies in LH, FSH, GH, PRL and TSH; most likely cause of hypogonadotropic hypogonadism”

84
Q

Where is PROP-1 (Homeobox protein prophet of PIT-1) located?

A

q-arm of chromosome 5

85
Q

What is the function of PROP-1 (Homeobox protein prophet of PIT-1)?

A

Transcription factor that regulates expression of PIT-1

86
Q

What is the pathology associated with PROP-1 (Homeobox protein prophet of PIT-1)?

A

Associated Pathology: Inactivating mutation -> deficiencies in LH, FSH, GH, PRL and TSH; most likely cause of hypogonadotropic hypogonadism

2022 REI Written Boards (21 decks)

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