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31 Cards in this Set
- Front
- Back
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Developmental processes:
-establishment of axes and symmetry -induction and differentiation -cell migration -cell adhesion -growth and death -... (ex. primative streak) -invagination/involution -cavitation -transitions |
condensation
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development involves:
-molecular signals -signal transduction pathways -transcriptional regulation and regulation of protein expression -changes in cellular ... |
phenotypes
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End result of signal transduction is ...
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altering gene expression
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... of cells involves turning genes off and on.
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Differentiation
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differentiation occurs as a result of expression of only a ... of the total genes present in a cell
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subset
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... - (The first gene that’s activated in a hierarchy):
hierarchy of transcription factors sets into motion a cascade of gene expression |
Master control gene
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myoD = the master control gene necessary for ... differentiation
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muscle
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... --> one cell sends a signal to another cell telling it to differentiate in a certain way
-signal transduction and gene activation |
induction
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... --> cell inherits a “determinant” that causes it to differentiate along a particular path
-mRNA encoding transcription factors -originates from the egg -may be unequally inherited in daughter cells |
autonomous regulation
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Many possibilities of turning genes on based on the ... that are present
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transcription factors
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True or false?
The neurons and muscle cells in your body have identical DNA |
True
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Developmental genes:
at least 1-2% of genes in the human genome have functions that are specifically concerned with ... (genes necessary for setting into action this process) some developmental genes are ... and have overlapping functions mutation can result in ... (can also involve decreased expression of gene) or ... (overactivity) and alter a key developmental process |
development
redundant loss of function gain of function |
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... involved in development
HOX/homeodomain proteins PAX proteins Zinc finger proteins |
transcription factor families
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Homeobox (HOX) genes
encode for ... proteins major regulatory transcription factors in embryogenesis -... pattern control and ... -axial skeleton and limb formation -development of the CNS -development of GI and urogenital tracts 4 clusters of HOX genes (HOX A-D) containing a total of 39 genes In each HOX cluster, there is a direct ... correlation between position of the gene and its temporal and spatial expression. |
homeospatial
domain partitioning linear |
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Mutations in Human HOX genes:
HOXD13 mutation -...: insertion of an additional digit between 3rd and 4th fingers and the 4th and 5th toes, webbing |
Synpolydactyly
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HOXA13 mutation:
... syndrome: shortening of the 1st and 5th digit, hypospadias in males and bicornuate uterus in females some cases of autism and mental retardation have been associated with HOX mutations |
hand-foot-genital
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Paired-Box (PAX) Genes:
also occur in clusters (9 genes total) important in development of ... system, vertebral column, and ... |
nervous
eyes |
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what is this?
Mutation in PAX3 -dystopia canthorum (eyes wide apart) -pigmentary abnormalities (frontal white blaze of hair, patchy hypopigmentation of skin, iris heterochromia) -congenital deafness -limb abnormalities |
Klein-Waardenburg Syndrome
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What is this?
-absence of the iris -may be due to mutation in PAX6 -key feature of WAGR syndrome (Wilms’ tumor, aniridia, genitourinary malformations, and retardation of growth and development) |
Aniridia
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Zinc Finger Genes
transcription factors in which DNA-binding domain contains finger-like loops with Cys and/or His forming a complex with Zn control various developmental processes, such as ... and ... development |
kidney
brain |
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What disorder is this?
incomplete cleavage of the developing brain into separate hemispheres and ventricles cyclopia (most severe) mutation in ZIC2 or sonic hedgehog protein |
Holoprosencephaly
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Which disorder is this?
mutation in zinc finger protein, GLI3 head, hand, and foot abnormalities |
Greig Cephalopolysyndactyly
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which signaling molecule is this?
organogenesis induction and patterning of mesoderm skeletal development Examples: -Nodal --> mesoderm induction, gradient along embryonic dorsal-ventral axis -BMP (bone morphogenetic protein) |
Transforming Growth Factor (TGF)-β
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which signaling molecule is this?
anteroposterior patterning, regionalization of brain, limb outgrowth tyrosine kinase receptors activate MAP kinase signal transduction pathways Most mutations that involve this signaling molecule, don’t occur within the signaling molecule itself, but involves mutations in its receptors |
Fibroblast Growth Factor (FGF)
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what syndrome is this?
craniosynostosis syndrome mutation in FGF receptor (FGFR2) premature fusion of cranial sutures hand and foot abnormalities |
Apert Syndrome
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which disorder is this?
most commonly encountered form of genetic short stature mutation in FGF receptor (FGFR3) limbs show proximal shortening head is usually enlarged with prominent forehead intelligence and life expectancy are normal |
Achondroplasia
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which signaling molecule is this?
binds to receptor called patched notochord and brain development limb outgrowth (expressed in the zone of polarizing activity in limb bud) mutations in SHH can cause holoprosencephaly and limb abnormalities mutations in PTCH (patched gene) can cause Gorlin syndrome (nevoid basal cell carcinoma syndrome) |
Sonic Hedgehog (SHH) Protein
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The Limb as a Developmental Model
... and ... -FGF proteins controlled by HOX genes ... differentiation and growth -FGF, SHH, HOX, T-Box |
Initiation
specification Tissue |
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Some Developmental Genes are Also Linked to ...
gain of function or loss of function mutations occurring in adulthood |
Cancer
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Which syndrome is this?
autosomal dominant cancer germline mutation in PTCH -normal gene acts as a proto-oncogene or tumor suppressor gene multiple basal cell carcinoma, dental cysts, palmar and plantar pits, bifid ribs, macrocephaly, congenital malformations |
Gorlin Syndrome
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Achondroplasia and Apert syndrome are caused my mutations in which of the following?
sonic hedgehog patched HOX FGFR PAX |
FGFR
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