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Genetics
Test 1 Set 1
46
Other
Graduate
01/08/2009

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Term
25,000-50,000
Definition
how many genes are thought to be in the human genome?
Term
karyotype
Definition
characteristic chromosome complement
Term
locus
Definition
position of gene on chromosome
Term
somatic and germ cells
Definition
what are the two types of germ cells?
Term
alleles
Definition
different forms of the same genes
Term
50 million bp, 250 million bp
Definition
small chromosomes have how many base pairs? large ones?
Term
H1, H2A, H2B, H3, H4
Definition
name all the histones
Term
H1
Definition
this histone binds at the edge of the nucleosome in the internucleosomal region
Term
H2A and H3
Definition
which two histones can be substituted by specialized histones
Term
H3 and H4
Definition
these two histones are subject to post-translational modicfications--> changes properties of certain nucleosomes
Term
interphase DNA
Definition
this type of DNA is bound to a scaffold protein (solenoid form)
Term
37, 13
Definition
how many genes do mitochondrial chromosomes code for? and how many code for actual proteins?
Term
3 billion base pairs
Definition
how many base pairs does the human genome have approximately? (50% are single copy DNA)
Term
G1, M
Definition
what is the longest stage in the cell cycle? shortest?
Term
kinetochore
Definition
the mitotic spindle attaches to the _____
Term
cytokinesis
Definition
what process follows telophase?
Term
pachytene
Definition
at what stage of meiosis does crossing over occur?
Term
chiasma
Definition
this is the actual site where crossing over occurs; plays an extremely important role in the segregation of chromosomes.
-failure of them to form can lead to Non-disjunction.
Term
spermatogonia
Definition
undifferentiated sperm cells
Term
64 days
Definition
how long does the complete process of sperm generation take to complete in humans?
Term
oocyte
Definition
this remains in meiosis II until fertilization
Term
meiosis I
Definition
where does diplotene arrest occur?
Term
end of m phase
Definition
at what stage does the spindle assembly checkpoint occur
Term
Retinoblastoma protein Rb
Definition
is phosphorylated by cyclinD/cdk4/cdk6, which drives cell past restriction point
Term
E2F
Definition
In its hypophosphorylated state, Rb is complexed with ____ family of transcription factors
Term
E2F-DP heterodimeric transcription factors
Definition
bind to sequences in regulatory regions of genes important in control of cell growth
Term
Cyclin E-cdk2 complex
Definition
is needed to maintain Rb in it’s hyperphosphorylated state. Entry into S phase is highly dependent on proteolytic degradation of Cyclin E by ubiquitin-dependent pathways.
Term
MPF
Definition
ckd1-cyclin A(B) complex. Activated by phosphorylation (3 phosphates) followed by dephosphorylation (2 phosphates) by phosphatase. _____ is inactive is it’s phosphorylated state. When active:
Breaks down nuclear envelope
Chromosome condensation
Mitotic spindle formation
Target Protein degradation
Term
Anaphase-promoting complex (APC)
Definition
Breaks down securing which is normally bound to and inhibits separin.
Term
Anaphase-promoting complex (APC)
Definition
Controlled by kinetochores which release Mad2 as long as they remain unattached to spindle microtubules, which inhibits APC, preventing initiation into anaphase
Term
ATM/ATR
Definition
triggers activation of a checkpoint that leads to cell cycle arrest or delay.
Term
p53
Definition
acts as transcription factor: stimulates expression of p21 (CDKI)  CELL CYCLE ARREST
Term
MDM2
Definition
- In inactive state, p53 remains bound to _____
Term
pachytene
Definition
where does crossing over occur during meiosis
Term
law of uniformity
Definition
parental characters are transmitted as independent units to offspring
Term
law of segregation
Definition
factors (alleles) for a contrasting pair segregate during transmission to next generation.
Term
law of independent inheritance
Definition
inheritance of 1 gene pair is independent of that of the others.
Term
mutlifactorial inheritance
Definition
this type of inheritance is na increased recurrence risk in families without characteristic pedigree pattern
Term
Genetic Heterogeneity
Definition
similar phenotypes that are produced by different genotypes
Term
histone code
Definition
pattern of major and specialized histones and their modifications  can vary from cell to cell
Function unknown but thought to be involved in DNA packaging and accessibility
Term
allelic
Definition
Hirschprung’s and Multiple Endocrine Neoplasia-II are what types of mutations
Term
at the loci
Definition
Retinis pigmentosa and Ehlers-Danlos Syndrome are examples of mutations where
Term
1,9,16
Definition
in what chromosomes do tandem repeats cocur the most
Term
Alu and Line sequences
Definition
Generate copies of themselves
Mobilized and integrate somewhere else (randomly) in chromosome  insertional gene inactivation
Term
contiguous gene inactivation
Definition
More than one gene is affected by more than one cellular event; segmental duplication lead to this as well
Term
meiotic non-disjunction
Definition
Most common mutational mechanism in humans
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