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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
Pattern formation
Pattern of tissues and organs established, general body plan laid down in embryo, regional separation
26
Stages of pattern formation
Define cells in the region, establish signaling centers, differentiation of cells in response to cues
27
Cell fate
Type of cell, function, longevity established during development, sonic hedgehog (SHH) involved in process
28
Sonic hedgehog (SHH)
Neural tube, somites, limbs, left-right axis
29
Holoprosencephaly
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
Axis specification
Vertebrate body plan has three axes- anterior/posterior, dorsal/ventral, left/right, anterior/posterior is first to form
31
HOX genes
Causes patterning along the axis, 4 clusters of similar genes, different chromosomes, expressed in specific spatial and temporal patterns
32
HOX gene expression
Up to 13 genes in each cluster, 3' genes expressed earlier (temporal colinearity), 3' genes expressed more anteriorly (spatial colinearity), regional specification
33
Homeotic transformation
HOX genes expressed from anterior boundary rearward in embryo, combination of expressed genes determines position, missing gene means segment identity wrong, segment transforms
34
Dorsal/ventral axis
Noggin and chordin are dorsalizing signals, Bmp4 is ventralizing signal, noggin and chordin bind Bmp4 and prevent binding to receptor
35
Left/right axis
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
Zinc-finger protein of the cerebellum (ZIC3)
Gli transcription factor family, X chromosome, affected males- randomization defects, heterozygote females- L/R reversal, more common in conjoined twins than normal twins
37
Left/right axis defects
Random (situs ambiguus) or reversed (situs inversus)
38
Gli family regulation in Drosophila
Regulated by forming complex with protein similar to dynein
39
Limb development
FGF8 inductive signal, can induce entire limb, signal mediated by FGF10 expression, Wnt2b and Wnt8c maintain FGF10
40
FGF8 knockout
Loss of FGF8 in apical ectodermal ridge (AER) leads to shortened limbs
41
Limb growth signals
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
Holt-Oram syndrome
Anterior defects, thumb/radius defects most common, T-box gene TBX5 mutated
43
Ulnar-mammary syndrome
Posterior defects, posterior digits/ulna most affected, TBX3 mutated, closely linked to TBX5, evolved from common gene
44
Organ formation
Complex, coordinate signals and gene expression, cellular interactions, cells become differentiated, must express proper genes for functions
45
Pancreas formation
Beta cells require IPF1 to express insulin, IPF1 mutations block pancreatic development, genes regulate insulin in addition to pancreatic cell maturation and differentiation
46
Transgenic mice
DNA microinjection, injection expression construct into pronucleus, insert in chromosome randomly, control expression by promoter, ectopic expression, overexpression, determine promoter function and structure
47
Knock-out mice
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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