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CHAPTER 11
GENETICS ODU
58
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Undergraduate 3
10/22/2015

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Term
CHROMATIN
Definition
is the genetic term for any complex of DNA and protein found in a nucleus of a cell
Term
CHROMOSOMES
Definition
are the separate pieces of chromatin that behave as a unit during cell division
Term
CHROMATIN IS
Definition
1/3 DNA, 1/3 histones, and 1/3 nonhistone proteins
Term
DNA INTERACTIONS W/ HISTONES AND NONHISTONE PROTEINS
Definition
produces sufficient level of compaction to fit into a cell nucleus
Term
HISTONES
Definition
small, positively charged, highly conserved
- bind to & neutralize (-) charged DNA
- 5 types-> H1,H2A,H2B,H3, & H4
-core histones make up the nucleosome
Term
NON HISTONE PROTEIN
Definition
200-200000 molecules of each kind
Term
LARGE VARIETY OF FUNCTION
Definition
structural role-> chromosome scaffold
chromosome replicaiton -> DNA polymerase
chromosome segregation->kinetochore protein
active in transcription
Term
DIFFERENT LEVELS OF CHROMOSOME COMPACTION
Definition
when stretched out, the DNA in a single cell would be about 6 ft long
compaction allows the DNA to fit in a cell nucleus
Term
THE NUCLEOSOME
Definition
a fundamental unit of chromosomal packing
resemble beads on a string
Term
SPACING AND STRUCTURE OF NUCLEOSOME AFFECT GENETIC FUNCTION
Definition
-accessibility for proteins that initiate transcription, replication, and further comp.
-arrangement along chromatin is highly defined & varies in diff cell types &under diff conditions
Term
THE NUCLEOSOME IS AN OCTAMER OF 2 EACH OF HISTONES H2A,H2B,H3, &H4
Definition
160 bp of DNA wraps 2x around a nucleosome core
40bp linker DNA connects adj. nucleosomes
histone H1 associates w/linker DNA as it enters & leaves nuclesome core
Term
XRAY CRYSTALLOGRAPHY OF NUCLEOSOME
Definition
-DNA bends sharply at several places as it wraps around the core histone ocatmer
- base seq. dictates preferred nucleosome potisions along the DNA
Term
NUCLEOSOME SUPERCOILING
Definition
model of higher-order packaging
100 A nucleosomal chromatin is compacted in to 300A fiber by supercoiling
Term
TH RADIAL LOOP-SCAFFOLD
Definition
model for higher level of compaction
several nonhistone proteins bind to chromatin every 60-100 kb and tether the 300A fiber into structure loops
Term
CONDESINS
Definition
may further condense chromosomes into a compact bundle for mitosis
Term
KARYOTYPE OF A HUMAN FEMALE EXAMINED BY HIGH RESOLUTION G BANDING
Definition
-metaphase chromosomes stained w/ giemsa have alternating bands of light and dark stain
-each contains many loops 1-10 mb long
-banding patterns on each chromosome are highly reproducible
Term
LOCATIONS OF GENE IN RELATION TO CHROMOSOMAL BANDS
Definition
short arm = p arm
long arm = q arm
w/in each arm, light and dark bands numbered
Term
FLUORESCENT IN SITU HYBRIDIZATION (FISH)
Definition
depends on hybridization btwn metaphase chromosomes and a labeled DNA sequence
Term
CHROMOSOMES ARE
Definition
spread on a glass slide and denatured to make them single stranded
Term
A DNA SEQUENCE
Definition
is labeled w/ fluorescent tag to make a probe
Term
THE PROBE
Definition
hybridizes to chromosomes at complementary regions
Term
SPECTRAL KARYOTYPING
Definition
- is a variation of FISH
- probes specific for each chromosome are labeled w/ different fluorescent dye
Term
HETEROCHROMATIN
Definition
-highly condensed, usually inactive transcriptionally
-darkly stained regions of chromosomes
Term
CONSTITUTIVE
Definition
condensed in all cells
- most of the Y chromosome and all pericentromeric regions
Term
FACULATIVE
Definition
condensed in only some cells and relaxed in others
- position effect variegation, x chromosome in female mammals
Term
EUCHROMATIN
Definition
relaxed, usually active transcriptionally
- lightly stained region
Term
TRANSCRIPTION REQUIRES
Definition
changes in chromatin structure
Term
PROMOTER
Definition
of inactive genes are hidden in nucleosomes
Term
TO ACTIVATE A GENE
Definition
transcription factors bind to enhancers and recruit chromatin remodeling proteins
Term
PROMOTERS ARE
Definition
exposed by removing or repositioning nucleosomes
Term
POSITION EFFECT
Definition
white+ (w+) is normally located in euchromatin
Term
CHROMOSOMAL INVERSION
Definition
can result in w+ gene being located adjacent to heterochromatin
Term
GENE SILENCING
Definition
-can be caused by spreading of heterochromatin into nearby gene
-spreading can occur over > 1000 kb of chromatin
- heterochromatin spreads further in some cells than in others
Term
GENETIC SCREENS
Definition
were used to identify genes involved in chromatin modification
Term
CHROMATIN MODIFICATION
Definition
-looked for changes in the amount of position effect variegation
-mutations that enhanced heterochromatin formation made eyes more white
-mutations that suppressed heterochromatin formation make less white eyes
Term
SOME GENES ENCODE PROTEINS
Definition
that localize to heterochromatin
Term
THE 4 CORE HISTONE TAILS
Definition
-can be modified w/ chemical groups
-tails extend outward from nucleosome
Term
ENZYMES CAN ADD CHEMICAL GROUPS
Definition
methyl group, phosphate group, ubiquitin
modified tails can alter nucleosomes and bind chromatin modifier proteins
Term
ACETYLATION
Definition
-histone acetyltransferases add acetyl group to histone tails
-prevent close packing
-favor expression of gene in euchromatin
-reversed by histone deacetylases
Term
METHYLATION
Definition
-histone methyltransferases add methyl groups
- affect depends on specific amino acid mod.
-adding to H3 lysine 9 favors heterochromatin
- reversed by methyltransferases
Term
X-CHROMOSOME INACTIVATION
Definition
-in female mammals through heterochromatin formation
-ex of facultative heterochromatin
-x-linked genes in XX & XY express same level
-random inactivation except x chromosome
-Barr body
Term
X CHROMOSOME MOSAICISM
Definition
-early embryos bot X chromosomes are active
-in humans random x inactivation 2 wks after fertilization
-some maternal inactivation and some paternal
adult females are mosaic X-linked
Term
X-INACTIVATION IS INITIATED
Definition
by expression of the Xist gene
Term
XIST
Definition
-x inactivation specific transcription
-expressed on the inactive x, but not the active x
Term
XIST RNA
Definition
-is large, non-coding, cis-acting regulatory RNA
-binds to the x-chromosome which expressed
-initiates histone modification that result in heterochromatin formation
Term
RATE OF DNA SYNTHESIS
Definition
in human cells is 50 nt/sec
Term
IT WOULD TAKE
Definition
-800 hrs to replicate the human genome if there was only one origin of replication
-most mammalian cells have 10000 origins
-many origins are active at same time
-accessible regions of DNA devoid in nucleosomes
Term
REPLICATION UNIT
Definition
DNA being replicated in both directions
Term
NUCLEOSOMES ARE
Definition
disassembled and reformed during DNA replication
Term
DNA IS PACKAGED
Definition
in nucleosomes w/in minutes of synthesis
Term
A TETRAMER OF H3 AND H4
Definition
associates w/DNA followed by 2 dimers of H2A and H2B
Term
NEW NUCLEOSOMES
Definition
are composed of recycled and new histones
Term
CHROMATIN IS
Definition
open to histone modification just after replication
Term
TELOMERES ARE "CAPS"
Definition
that protect the ends of eukaryotic chromosmoes
Term
TELOMERS CONSIST OF
Definition
-specific repetitive sequences and dont contain genes
-Species-specific
-TTAGGG in humans -> tetrahymena
-250-1500 repeats w/ variable # btwn diff cells
Term
REPLICATION AT ENDS OF CHROMOSOMES
Definition
-RNA primers used during DNA replication are removed, leaving a unreplicated DNA at 5' end
-w/o a special mechanism, DNA would be lost from every new DNA strand at each cell
Term
ARTIFICIAL CHROMOSOMES REQUIRE 3 KEY ELEMENTS
Definition
centromeres
telomeres
origins of replication
Term
CONSEQUENCES OF DELETING KEY ELEMENTS
Definition
-no centromere no telomere - replicate segregation errors
- no telomere - replicate degrade if linear
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