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Biochemistry > Developmental Genetics > Flashcards

Developmental Genetics Flashcards

1
Q

Animal models

A

Genes and gene expression patterns are conserved, similar developmental pathways can be investigated- axis specification, pattern formation, organogenesis, concepts of induction and polarity

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2
Q

Conorhabditis elegans (nematode)

A

Short generation, complete cell fate map, alternate body plan, not a vertebrate

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3
Q

Drosophila melanogaster (fruit fly)

A

Short generation, easy to breed, lots of mutants, alternate body plan, must maintain live stock

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4
Q

Danio rerio (zebrafish)

A

Transparent embryos, easy to breed, small embryo difficult to manipulate

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5
Q

Xenopus laevis (clawed frog)

A

Large transparent embryo, can manipulate easily, tetraploid, makes genetics difficult

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6
Q

Gallus gallus (chicken)

A

Easy to observe and manipulate embryo, genetics difficult

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7
Q

Mus musculus (mouse)

A

Easy to breed, mammal, good genetics, embryo manipulation challenging

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8
Q

Genetic mediators

A

Paracrine signaling molecules- interactions between nearby cells
DNA transcription factors- control gene expression in cell, respond to external stimuli
Extracellular matrix proteins- scaffolding for tissues and organs, facilitate cell migration

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9
Q

Paracrine signaling molecules

A

Secreted into intercellular space, diffuse to nearby cells, four major families: fibroblast growth factor (FGF), Hedgehog proteins, wingless family (Wnt), transforming growth factor-beta (TGF-beta)

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10
Q

Signaling and receptors

A

Paracrine signaling molecules need receptors, cell-surface proteins that bind signal molecule cause gene expression changes- phosphorylation of proteins, signal transduction cascades

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11
Q

FGFR3 mutations

A

One of family of FGF receptors, common structure, 3 Ig-like domains, TM domain, split kinase domain, expressed in growing bones, skeletal dysplasias caused by mutation, most common due to autosomal dominant FGFR3 mutation

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12
Q

Achondroplasia

A

Skeletal displasia, disproportionately short stature (short limbs), macrocephaly, moderate increase in FGFR3 activity inhibits chondrocyte growth

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13
Q

Hypochondroplasia

A

Skeletal displasia, milder, less activation, fewer abnormalities

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14
Q

Thanatophoric dysplasia

A

Skeletal displasia, most severe, essentially lethal, very short limbs, highly activated receptor

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15
Q

Transcription factors

A

Bind DNA, activate or repress gene expression, usually multiple targets, cascade effect, causes pleiotropic effects

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16
Q

Families of transcription factors

A

Homeobox- HOX, PAX, EMX, MSX
High-mobility group (HMG)- SOX
T-box family- TBXs

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17
Q

SOX family

A

Prototype is Sry- sex determining region of Y, mammalian testis determining factor, regulates SOX9 expression in genital ridges

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18
Q

SOX9

A

Regulates chondrogenesis and Col2A1, mutation causes compomelic dysplasia, short limbs, sex-reversal of XY fetuses

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19
Q

Hirschsprung disease

A

Neural crest defect, enteric neurons do not develop properly, sporadic and familial cases though to be multifactorial, SOX10 one of several genes that causes phenotype

20
Q

Extracellular matrix proteins

A

Secreted proteins that form scaffold for tissues, separate cells, provide matrix for migration, cells bind to ECM using specific proteins

21
Q

Type 1 collagen- osteogenesis imperfecta

A

Collagen is highly modified triple-helix, glycosylated, hydroxylated, cross-linked, multiple helices form fibrils, mutations in glycines disrupt fibril formation, bone formation disrupted

22
Q

Fibrillin-1 mutations

A

Coordinates microfibril assembly in ECM (with elastin), fibrillin-1 mutations in Marfan syndrome, elastin mutations in supravalvular aortic stenosis

23
Q

Laminin mutations

A

Important in anchoring cells to ECM, LAMC2 mutations in junctional epidermolysis bullosa, epithelial does not attach, large blisters form on skin

24
Q

Marfan syndrome

A

Tall and lanky, hypermobile joints, arachnodactyly, lens displacement, dilation of ascending aorta

25
Q

Pattern formation

A

Pattern of tissues and organs established, general body plan laid down in embryo, regional separation

26
Q

Stages of pattern formation

A

Define cells in the region, establish signaling centers, differentiation of cells in response to cues

27
Q

Cell fate

A

Type of cell, function, longevity established during development, sonic hedgehog (SHH) involved in process

28
Q

Sonic hedgehog (SHH)

A

Neural tube, somites, limbs, left-right axis

29
Q

Holoprosencephaly

A

Severe form of SHH mutation, SHH attaches to cholesterol in membrane, midline brain defects caused by cholesterol biosynthesis inhibitors, severe mental retardation, early death, Smith-Lemli-Opitz syndrome

30
Q

Axis specification

A

Vertebrate body plan has three axes- anterior/posterior, dorsal/ventral, left/right, anterior/posterior is first to form

31
Q

HOX genes

A

Causes patterning along the axis, 4 clusters of similar genes, different chromosomes, expressed in specific spatial and temporal patterns

32
Q

HOX gene expression

A

Up to 13 genes in each cluster, 3’ genes expressed earlier (temporal colinearity), 3’ genes expressed more anteriorly (spatial colinearity), regional specification

33
Q

Homeotic transformation

A

HOX genes expressed from anterior boundary rearward in embryo, combination of expressed genes determines position, missing gene means segment identity wrong, segment transforms

34
Q

Dorsal/ventral axis

A

Noggin and chordin are dorsalizing signals, Bmp4 is ventralizing signal, noggin and chordin bind Bmp4 and prevent binding to receptor

35
Q

Left/right axis

A

Early event- asymmetric expression of SHH from notochord, causes left side expression of nodal (TGFbeta), rightward looping of heart tube results, mutation in dynein, motor protein for cilia

36
Q

Zinc-finger protein of the cerebellum (ZIC3)

A

Gli transcription factor family, X chromosome, affected males- randomization defects, heterozygote females- L/R reversal, more common in conjoined twins than normal twins

37
Q

Left/right axis defects

A

Random (situs ambiguus) or reversed (situs inversus)

38
Q

Gli family regulation in Drosophila

A

Regulated by forming complex with protein similar to dynein

39
Q

Limb development

A

FGF8 inductive signal, can induce entire limb, signal mediated by FGF10 expression, Wnt2b and Wnt8c maintain FGF10

40
Q

FGF8 knockout

A

Loss of FGF8 in apical ectodermal ridge (AER) leads to shortened limbs

41
Q

Limb growth signals

A

Proximal/distal growth stimulated by FGF2, FGF4, FGF8, zone of polarizing activity (ZPA) uses SHH to maintain AER, signals positional information along proximal/distal axis

42
Q

Holt-Oram syndrome

A

Anterior defects, thumb/radius defects most common, T-box gene TBX5 mutated

43
Q

Ulnar-mammary syndrome

A

Posterior defects, posterior digits/ulna most affected, TBX3 mutated, closely linked to TBX5, evolved from common gene

44
Q

Organ formation

A

Complex, coordinate signals and gene expression, cellular interactions, cells become differentiated, must express proper genes for functions

45
Q

Pancreas formation

A

Beta cells require IPF1 to express insulin, IPF1 mutations block pancreatic development, genes regulate insulin in addition to pancreatic cell maturation and differentiation

46
Q

Transgenic mice

A

DNA microinjection, injection expression construct into pronucleus, insert in chromosome randomly, control expression by promoter, ectopic expression, overexpression, determine promoter function and structure

47
Q

Knock-out mice

A

Using embryonic stem cells, homologous recombination to replace normal gene with altered counterpart, inject cells into blastocysts, breed to produce homozygotes, knock-out is complete disruption of function

Biochemistry (18 decks)

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