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how many genes are thought to be in the human genome? |
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characteristic chromosome complement |
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position of gene on chromosome |
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what are the two types of germ cells? |
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different forms of the same genes |
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50 million bp, 250 million bp |
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small chromosomes have how many base pairs? large ones? |
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this histone binds at the edge of the nucleosome in the internucleosomal region |
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which two histones can be substituted by specialized histones |
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Definition
these two histones are subject to post-translational modicfications--> changes properties of certain nucleosomes |
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Definition
this type of DNA is bound to a scaffold protein (solenoid form) |
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how many genes do mitochondrial chromosomes code for? and how many code for actual proteins? |
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how many base pairs does the human genome have approximately? (50% are single copy DNA) |
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what is the longest stage in the cell cycle? shortest? |
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Term
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Definition
the mitotic spindle attaches to the _____ |
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what process follows telophase? |
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at what stage of meiosis does crossing over occur? |
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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. |
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Term
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Definition
undifferentiated sperm cells |
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Term
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Definition
how long does the complete process of sperm generation take to complete in humans? |
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Definition
this remains in meiosis II until fertilization |
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where does diplotene arrest occur? |
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Term
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Definition
at what stage does the spindle assembly checkpoint occur |
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Term
Retinoblastoma protein Rb |
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Definition
is phosphorylated by cyclinD/cdk4/cdk6, which drives cell past restriction point |
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Term
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Definition
In its hypophosphorylated state, Rb is complexed with ____ family of transcription factors |
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E2F-DP heterodimeric transcription factors |
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Definition
bind to sequences in regulatory regions of genes important in control of cell growth |
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Term
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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. |
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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 |
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Term
Anaphase-promoting complex (APC) |
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Definition
Breaks down securing which is normally bound to and inhibits separin. |
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Term
Anaphase-promoting complex (APC) |
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Definition
Controlled by kinetochores which release Mad2 as long as they remain unattached to spindle microtubules, which inhibits APC, preventing initiation into anaphase |
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Definition
triggers activation of a checkpoint that leads to cell cycle arrest or delay. |
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Definition
acts as transcription factor: stimulates expression of p21 (CDKI) CELL CYCLE ARREST |
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Definition
- In inactive state, p53 remains bound to _____ |
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Definition
where does crossing over occur during meiosis |
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Definition
parental characters are transmitted as independent units to offspring |
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Term
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Definition
factors (alleles) for a contrasting pair segregate during transmission to next generation. |
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Term
law of independent inheritance |
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Definition
inheritance of 1 gene pair is independent of that of the others. |
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Term
mutlifactorial inheritance |
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Definition
this type of inheritance is na increased recurrence risk in families without characteristic pedigree pattern |
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Term
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Definition
similar phenotypes that are produced by different genotypes |
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Term
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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 |
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Term
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Definition
Hirschprung’s and Multiple Endocrine Neoplasia-II are what types of mutations |
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Term
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Definition
Retinis pigmentosa and Ehlers-Danlos Syndrome are examples of mutations where |
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in what chromosomes do tandem repeats cocur the most |
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Term
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Definition
Generate copies of themselves Mobilized and integrate somewhere else (randomly) in chromosome insertional gene inactivation |
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Term
contiguous gene inactivation |
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Definition
More than one gene is affected by more than one cellular event; segmental duplication lead to this as well |
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Definition
Most common mutational mechanism in humans |
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