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Human Genetics
early human development, stem cells, cancer genetics, genetics of aging, studying gene function, genetic approaches to human disease
68
Science
Undergraduate 3
04/09/2014

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Term
gastration
Definition
the process by which cells of the epiblast give rise to the three embryonic germ layers
Term
fertilization
Definition
process by which two sex cells fuse to form new individual
Term
zona pellucida
Definition
thick extracellular membrane outside an eggs plasma membrane
Term
cumulus cells
Definition
layer of cells that surround the egg and nurture it before and just after ovulation
Term
acrosome
Definition
vesicle at the head of sperm cells containing digestive enzymes
Term
clevage
Definition
developmental stage where zygote divides repeatedly
Term
blastomeres
Definition
number of smaller cells formed by clevage of the zygote
Term
blastocele
Definition
fluid filled cavity in the centre of a mass of blastomeres
Term
blastula (blastocyst in mammals)
Definition
ball of blastomeres
Term
morula
Definition
the initial, loosely packed ball of cells that results from early clevage
Term
compaction
Definition
blastomeres huddle together to form a compact ball of cells, stablized by gap junctions (outside of mass) and tight junctions (inner cells of mass)
Term
inner cell mass
Definition
mass of cells located at polar end of embryo, gives rise to extracellular membranes and subsequent fetus
Term
chorion
Definition
outermost embryonic membrane created by trophoblast cells
Term
cell fate
Definition
the ultimate destination of an undifferentiated cell
Term
cell specification
Definition
early differentiation, cell acquires specific traits but can still be influenced by environment
Term
cell differentiation
Definition
cell becomes irriversibly commited
Term
regulative development
Definition
removal of part of the embryo can be compensated for by remaining similar cells
Term
mosaic development
Definition
loss of a portion of the embryo would lead to failure of development of the final structures those cells were determined to become
Term
primitive streak
Definition
characterizing feature of gastrulation in mammals, faint groove along longitudinal axis of germ disc
Term
gastrulation
Definition
the formation of the three germ layers during development
Term
primary sex determination
Definition
instruction of the primordial gonads to develop into testes
Term
secondary sex determination
Definition
external genitalia instructed to develop by hormones
Term
intersex conditions
Definition
both male and female traits present
Term
male pseudohermaphodism
Definition
46 XY individual with female genitals/characteristics
Term
female pseudohermaphodism
Definition
46 XX with ambiguous/male genetalia
Term
true hermaphodism
Definition
translocation of Y chromosome to X chromosome, chimerism of XX and XY zygotes
Term
diethylstilbestrol (DES)
Definition
causes infertility by changing patterning of wolffian and mullerian ducts
Term
biphenol A (BPA)
Definition
causes gonal abnormalities, decreased sperm count, early female puberity, breast cancer predisposition
Term
mesenchymal cells
Definition
irregular cell shape, loosely packed, scattered within a matrix
Term
epithelian cells
Definition
regular cell shape, tightly packed, simple or stacked sheets
Term
juxtacrine interaction
Definition
signaling by direct contact between inducing and responding cells
Term
piebaldism
Definition
autosomaldominant c-kit mutation, causes haploinsuffiency
Term
waardenburg syndrome
Definition
autosomal dominant MITF mutation
Term
craniosynotosis
Definition
premature ossification of structures between developing flat bones of the skull, mutation in FGFR2
Term
dwarfism
Definition
altered proliferation and differentiation of chondrocytes at epithelial plates in long bones, mutations in FGFR3
Term
integrins
Definition
membrane receptors that bind to adhesive ECM glycoproteins
Term
lissencephaly
Definition
defective neural migration during development
Term
morphagens
Definition
mediate paracrine interactions by diffusing from cell to cell, forming gradients
Term
holoprosencephaly
Definition
failed or incomplete seperation of the forebrain into distinct left and right hemispheres in early gestation, caused by haploinsuffiency of shh of Gli2
Term
stem cell concept
Definition
SCs divide to form a specilized cell as well as more stem cells
Term
totipotent SC
Definition
can develop into any and all organism cells
Term
pluripotent SC
Definition
can give rise to all cells of the embryo, but not extra-embryonic structures
Term
multipotent SC
Definition
can give rise to multiple cell lineages, but no longer all cell types
Term
oligopotent SC
Definition
can give rise to a few different cell types
Term
unipotent SC
Definition
can give rise to only one type of differentiated cell
Term
melanomas
Definition
tumours of pigment cells, increased MITF expression
Term
teratoma
Definition
tumour of multiple cell lineages
Term
carcinoma
Definition
tumour originates in epithelial tissue
Term
sarcoma
Definition
tumour originaltes in mesenchymal tissue
Term
oncogenes
Definition
stimulate cell prolferation and development
Term
oncomirs
Definition
altered oncogenic miRNAs induced by some viruses
Term
proto-oncogene
Definition
normally inactive in normal tissue, but becomes active in tumours
Term
gleevec
Definition
ATP analogue that binds to pocket of mutant kinase, blocking its oncogenic activity in some cancers
Term
vasculogenesis
Definition
formation on blood vessels de novo from mesoderm tissue
Term
angiogenesis
Definition
growth of new vessels from pre-existing vessels
Term
gatekeepers
Definition
TSGs that regulate cell cycle or cause growth inhibition (direct)
Term
caretakers
Definition
TSGs that respond to DNS damage (indirect)
Term
mitogens
Definition
growth factors that promote cell proliferation by overcoming the brakes of the cell cycle
Term
hutchunson-gilford progeria syndrome
Definition
most sever progeria syndrome, single point mutation in lamin A gene, results in disorginization of nuclear lamina and loss of heterochromatin
Term
genomics
Definition
focused on mapping, sequencing, and analyzing functions of entire genomes
Term
structural genomis
Definition
focuses on 3D protein sturctures
Term
funtional genomics
Definition
focuses on dynamic aspects of genes and proteins
Term
transcriptome
Definition
complete set of RNAs transcribed from genome
Term
autologous SCT
Definition
patient receives own cells
Term
allogenic SCT
Definition
patient receives donor cells
Term
syngenic SCT
Definition
patient receives donor cells from genetically identical donor
Term
transduction
Definition
delivery of DNA using viral vectors
Term
transfection
Definition
delivery of DNA using non-viral methods
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