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CHAPTER 12
GENETICS ODU
24
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Undergraduate 3
10/23/2015

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Term
TRANSPOSABLE ELEMENTS
Definition
are any segment of DNA that evolves the ability to move from place to place within a genome
Term
MARCUS RHODES AND BARBARA MCCLINTOCK
Definition
inferred existence of TE's from genetic studies of corn
Term
TE's HAVE NOW BEEN FOUND IN ALL ORGANISMS
Definition
-previously considered to be selfish DNA-> carried no genetic info
-now known that some have evolved function
-TE length ranges from 50bp - 10kb
-can be present in hundreds of thousands of copies per genome
Term
MOTTLING OF KERNELS
Definition
caused by movements of a TE into and out of a pigment gene
Term
RETROTRANSPOSONS
Definition
-2 poly A tails-> long and short
-one has long terminal repeats-> human endogenous retroviruses
-her s are similar in structure
Term
EVIDENCE THAT RETROTRANSPOSONS MOVE
Definition
Ty1 with intron cloned into plasmids
introns spliced out, for reverse transcriptase to continue
Term
LTR RETROPOSONS MOVE
Definition
transcription of retrosposons
synthesis of cDNA by reverse transcriptase
staggered cut made in genomic target site
retroposons insert into target site
original copy remains while new copy inserts into another genomic location
Term
STRUCTURE OF DNA TRANSPOSONS
Definition
-most DNA transposons contain->
-inverted repeats (IR) of 10-20 bp long at each end
-gene encoding transposase, which recognizes the IR's and cuts at border btwn the IR and genomic DNA
Term
MANY TE's SUSTAIN DELETIONS DURING THE PROCESS OF
Definition
-transposition or after transposition
- deletion of promoter for retro.. transcription
-deletion of reverse transcriptase gene or transposase gene
-deletion of IR's
-most SINE's and LINE's in human genome are defective
Term
AUTONOMOUS TE's
Definition
nondeleted TE's that can transpose on their own
Term
NONAUTONOMOUS TE's
Definition
defective TE's that can transpose only if transposase activity expressed form intact TE
Term
TE INSERTION CAN RESULT IN ALTERED PHENOTYPE
Definition
-TE can insert within coding region of a gene
-TE can insert near a gene and affect its expression
Term
TE's CAN TRIGGER SPONTANEOUS CHROMOSOMAL REARRANGEMENTS
Definition
unequal crossing over between TE's
Term
GENE RELOCATION DUE TO TRANSPOSITION
Definition
formation of composite TE
Term
SPONTANEOUS MUTATIONS IS THE
Definition
-white gene of Drosophila arising from TE insertion
-eye color phenotype depends on the TE involved and where it inserts
Term
INSTABILITY OF TE-ASSOCIATED ALLELES
Definition
-a nonautonnmous TE inserted into gene C and disrupts its function
- in kernels that have an autonomus TE (AC), DS can hop out restoring gene function
Term
GENE RELOCATION DUE TO TRANSPOSITION
Definition
-can occur when 2 copies of a TE integrate in nearby locations on the same chromosome.
-transposase can recognize outermost IR sequences and move intervening sequences to a different location
Term
RELOCATION DUE TO TRANSPOSITION
Definition
-can move up to 400 kb of DNA
-mediatees transfer of drug resistance genes between different strains and species of bacteria
Term
ALTERNATIVE SPLICING OF TRANSPOSASES GENE LIMITS TE MOVEMENT
Definition
-one splice form produces transposasae
-the other produces a repressor
-the repressor competes with transposase for binding the inverted repeats
Term
ANUEPLOIDY
Definition
-is the loss or gain of one or more chromosomes.
-individuals whose chromosome number is not an exact multiple of the diploid number (2n) for that species
Term
ANEUPLOIDY USUALLY RESULTS IN MULTIPLE ABNORMALITIES OR LETHALITY
Definition
-autosomal monosomy is usually lethal
-most trisomies are lethal, few result in characteristic syndrome
-sex chromosome aneuploidy is tolerated due to x chromosome inactivation
Term
PHENOTYPE OF X-CHROMOSOME
Definition
aneuploidy is largely due to pseudoautosomal genes
Term
X CHROMOSOME ANEUPLOIDY
Definition
causes infertility
Term
ANEUPLOIDY IS CAUSED BY NONDISJUNCTION
Definition
is the failure of chromosomes to segregate normally and can occur during meiosis 1
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