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GENE 302
Lecture 12 Chromosome Theory
50
Biology
Undergraduate 4
03/04/2012

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Term
Chromosome organization in the human genome
Definition
3 X 10^9 nucleotide pairs organized as 24 chromosomes
Term
The 24 human chromosomes are separated as
Definition
22 different autosomes and 2 different sex chromosomes
Term
Each human chromosome contains how many nucleotide pairs of DNA?
Definition
Between 46 X 10^6 to 250 X 10^6
Term
The diameter of a human chromosome nucleus is
Definition
Approximately 10 to 15 micrometers
Term
The length of DNA if stretched out is
Definition
Approximately 2 meters
Term
The smallest human chromosome is
Definition
Approximately 4.6 X 10^7 bp. This is equivalent to ~1.4 cm of extended DNA.
Term
How many fold is DNA condensed to in mitosis?
Definition
7,000
Term
In eukaryotes, genomic DNA is organized into
Definition
Chromatin
Term
What is the fundamental unit of chromatin?
Definition
Nucleosome
Term
Histones constitute the major class for what proteins?
Definition
Chromosomal
Term
What are histones?
Definition
Small highly basic proteins (positive charge) that bind without sequence specificity to the negatively charged DNA
Term
Histones assemble into
Definition
octameric complexes with two each of the histone proteins
Term
A nucleosome is comprised of
Definition
a histone octamer that is wrapped with 146 bp of DNA (almost two complete wraps)
Term
What is linker DNA?
Definition
The DNA between each nucleosome
Term
Which histones are constituents of chromosomal proteins?
Definition
H1, H2A, H2B, H3, and H4
Term
Euchromatin
Definition
Regions of the chromatin more loosely packaged, lightly stained during interphase.
Term
Euchromatin contains
Definition
most single copy DNA and mutable genes
Term
Euchromatin will do what during interphase and what throughout S phase?
Definition
Decondense and Replicate
Term
Heterochromatin
Definition
Regions of chromatin that are highly compact and heavily stained in interphase
Term
Heterochromatin contains
Definition
few mutable genes, and is enriched in middle and highly repetitive DNA
Term
The heterochromatin region may what during interphase and what during late S phase?
Definition
Not completely decondense and Replicate
Term
What are the three essential components of linear chromosomes?
Definition
Telomeres, centromeres, and origins of replication
Term
Centromeres promote
Definition
chromosome segregation in mitosis and meiosis
Term
Kinetochore
Definition
The point where microtubules of the spindle apparatus attach to the chromosome
Term
The simplest centromere organization is in
Definition
budding yeast, Saccharomyces cerevisiae. 1 microtubule is attached.
Term
Centromere structures in humans are
Definition
highly complex. 10-15 microtubules attach to each centromere
Term
Centromeres are required for
Definition
chromosome segregation
Term
How many centromeres are needed for proper chromosome segregation?
Definition
Only one
Term
What do telomeres protect?
Definition
Chromosome ends
Term
The female sex chromosome is considered to be what sex?
Definition
Homogametic
Term
The male sex chromosome is considered to be what sex?
Definition
Heterogametic
Term
X and Y chromosomes evolved from
Definition
autosomal chromosomes
Term
How many bps does the X sex chromosome contain and how many genes does it encode?
Definition
153 Mbp and approximately 1,000
Term
How many bps of DNA does the Y chromosome have and how many genes does it encode?
Definition
60 bp and approximately 80-130 genes
Term
The testis determining factor does?
Definition
Activates the male pathway and blocks the female pathway
Term
In sex linkage, what is different in outcome and what is distributed differently by sex in progeny?
Definition
Reciprocal crosses and phenotypes
Term
What did Thomas Hunt Morgan study?
Definition
White-eye mutation that is X-linked in flies.
Term
A gene on the X chromosome is considered to be?
Definition
X-linked
Term
How do humans deal with imbalance of genes on the X and Y chromosomes?
Definition
Inactivation of one X chromosome in females
Term
How do flies deal with imbalance on the X and Y chromosomes?
Definition
Hyperactivation of X chromosomes on males
Term
How do worms deal with imbalance of genes on the X and Y chromosomes?
Definition
Hypoactivation of both X chromosomes in females.
Term
The process of X-chromosome inactivation can be divided into which three major steps?
Definition
1. X chromosomes are counted.
2. Choice is made as to which X chromosome(s) will be inactivated.
3. Selected X chromosome(s) actually inactivated.
Term
XIC locus stands for
Definition
X-Inactivation Center
Term
The XIC locus contains the
Definition
XIST gene (X-Inactivation Specific Transcript), which does not encode a protein
Term
XIST RNA binds only to the
Definition
X chromosome it is transcribed from
Term
The X chromosome is inactivated when it is completely covered with
Definition
the XIST RNAs
Term
The TSIX locus is the
Definition
reverse of the XIST locus
Term
The TSIX locus is transcribed from
Definition
the DNA strand that did not serve as the template for XIST RNA. The transcript is antisense (and its name is written backwards from XIST).
Term
There is an overlap in transcription between
Definition
XIST and TSIX
Term
Base pairing between TSIX and XIST RNAs destabilize the
Definition
XIST RNA and leads to its rapid degradation
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