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Genome Structure
Mitosis, meiosis and chromosome genetics
120
Biochemistry
Undergraduate 1
01/12/2013

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Term
How many genes do humans have?
Definition
25,000
Term
What is the relationship between gene number and genome size?
Definition
There isn't one
Term
All eukaryotes have at least _____ chromosomes?
Definition
Two
Term
Where does DNA replication occur in eukaryotes?
Definition
At one of the multiple origins of replication
Term
What is a karyotype?
Definition
The chromosomes of a genome
Term
How many chromosomes do humans have?
Definition
46
Term
What is a chromatid?
Definition
A supercoiled chromosome
Term
What are sister chromatids?
Definition
Both copies of the chromosome held together at the centromere
Term
What is the centromere?
Definition
The point at which two sister chromatids are held together
Term
What are the four types of centromere position?
Definition
Meta, submeta, acro and telo
Term
Where is the centromere on a metacentric chromosome?
Definition
In the middle
Term
Where is the centromere on a submetacetric chromosome
Definition
Just above or below the middle
Term
Where is the centromere on an acrocentric chromosome?
Definition
Just before the telomere
Term
Where is the centromere on a telocentric chromosome?
Definition
At the telomeres
Term
What is the telomere?
Definition
The ends of each chromosome that have repeat A's, G's and T's
Term
Which is the shorter arm of a chromatid?
Definition
p
Term
Which is the longer arm of the chromatid?
Definition
q
Term
What are the two functions of telomeres?
Definition
Solve the end replication problem and allow the cell to distinguish the end of a chromosome
Term
What is the end replication problem?
Definition
DNA polymerase does not know where the end of the chromosome is so it replicates some of the telomere until it realises it has finished repliaction
Term
What happens as a result of the end replication problem?
Definition
The telomeres get shorter and shorter
Term
Which enzyme prevents chromosome shortening?
Definition
Telomerase
Term
Why is telomerase usually turned off in somatic cells?
Definition
To cause the cells to die after a while so cancer can not develop
Term
Which organisms lives longer due to the presence of telomerase?
Definition
The naked mole rat
Term
What is chromatin?
Definition
DNA and histones?
Term
What are histones?
Definition
Proteins that DNA is wrapped around to keep it condensed in the nucleus
Term
How many times is DNA wrapped around one histone?
Definition
Twice
Term
What are the four types of unusual chromosome?
Definition
Minichromosomes, Beta, Holocentric and Polytene
Term
What are minchromosomes?
Definition
Short, gene dense chromosomes
Term
Which organism has minichromosomes?
Definition
Chickens
Term
What are Beta chromosomes?
Definition
Additional chromosomes
Term
What are holocentric chromosomes?
Definition
Chromosomes with multiple kinetochores
Term
What are polytene chromosomes?
Definition
Giant chromosomes
Term
Where are polytene chromosomes found in the Drosophila?
Definition
In the salivary glands
Term
How are polytene chromosomes formed?
Definition
Repeated replication of homologous chromosomes without division
Term
What are chromomeres?
Definition
The banding pattern on polytene chromsomes
Term
What is the chromocentre?
Definition
The piece of DNA that holds the polytene chromosome together
Term
What have polytene chromosomes been used for?
Definition
Providing detail for mapping chromosomes
Term
What is mitosis?
Definition
The division of cells to produce 2 genetically identical daughter cells
Term
What four things is mitosis required for?
Definition
Embryonic development, replacement of skin, wound healing and the production of reticulocytes
Term
Uncontrolled mitosis leads to what?
Definition
Cancer
Term
What are the five stages of mitosis?
Definition
Prophase, Prometaphase, metaphase, anaphase and telophase
Term
What is the kinetochore?
Definition
The protein structure at the center of centromeres that allow spindle fibres to attach
Term
What are spindle fibres?
Definition
Microtubules that create an axis for mitosis
Term
What is the centriole?
Definition
A cytoplasmic organelle with nine groups that divide to form the mitotic spindle
Term
What is the cetrosome?
Definition
The region of the cytoplasm that contain the two centrioles
Term
During mitosis, what happens during the interphase of G2?
Definition
Chromosomes extend
Term
During mitosis, what happens during prophase?
Definition
Chromosomes condense and centrioles divide and move apart
Term
During mitosis, what happens during prometaphase?
Definition
Chromosomes form chromatids, centrioles reach opposite poles and spindle fibres attach to the kinetchore
Term
During mitosis, what happens during metaphase?
Definition
Centromeres aline along the metaphase plate
Term
During mitosis, what happens during anaphase?
Definition
Centromeres divide and each daughter chromosome is pulled to each pole
Term
During mitosis, what happens during telophase?
Definition
Nuclear envelope reforms and chromosome reforms
Term
During mitosis, what happens during cytokinesis?
Definition
Cell division
Term
What is meiosis?
Definition
The production of four haploid gamete cells from one diploid somatic cell
Term
What are the two phases of meiosis?
Definition
Meiosis one and two
Term
What are the names of the five stages in the prophase of meiosis one?
Definition
Leptonema, zygonema, pachynema, diplonema and diakinesis
Term
In meiosis one, what happens during the leptotene phase of prophase?
Definition
Duplicated chromosomes condense
Term
In meiosis one, what happens during the zygotene phase of prophase?
Definition
Bivalents form and synapsis begins
Term
In meiosis one, what happens during the pachytene phase of prophase?
Definition
Crossing over
Term
In meiosis one, what happens during the diplotene phase of prophase?
Definition
Formation of a visible chiasmata and disapearence of synaptonemal complexes
Term
In meiosis one, what happens during the diakinesis phase of prophase?
Definition
Nuclear membrane fragments
Term
How often does crossing over occur?
Definition
At least once on each chromosome
Term
Which organism does not do crossing over?
Definition
Drosophila
Term
What is the synaptonemal complex?
Definition
A zipper that forms between the two chromosomes to aid crossing over
Term
In meiosis one, what happens during metaphase?
Definition
Alignment of tetrads on metaphase plate
Term
In meiosis one, what happens during anaphase?
Definition
Disjunction of tetrads
Term
In meiosis one, what happens during telophase?
Definition
Nuclear membrane forms around dyads and cell division
Term
How does meiosis one differ from meiosis two?
Definition
No DNA replication and no crossing over
Term
What happens between meioisis one and meiosis two?
Definition
Short interphase or straight into meioisis two
Term
In meiosis two, what happens during prophase?
Definition
Nuclear membrane breaks down
Term
In meiosis two, what happens during prometaphase?
Definition
Division of spindles
Term
In meiosis two, what happens during metaphase?
Definition
Alignment of dyads on metaphase plate
Term
In meiosis two, what happens during anaphase?
Definition
Division of centromeres and migration of each monad to each pole
Term
In meiosis two, what happens during telophase?
Definition
Formation of nuclear membrane
Term
In meiosis two, what happens during cytokinesis?
Definition
Cell division
Term
How do spermatogenesis and oogenesis differ?
Definition
Spermatogenesis produces four haploid cells continuously but in oogenesis only one egg is produced and all eggs are stopped at prophase one in the fetus
Term
What happens when disjunction occurs during meioisis?
Definition
Aneuploidy
Term
What is aneuploidy?
Definition
Chromosome number is not an exact multiple of the haploid number
Term
What is a trisomy?
Definition
Three copies of a chromosome rather than two
Term
A trisomy at chromsome 8 causes what?
Definition
Warkany Syndrome 2
Term
A trisomy at chromsome 12 causes what?
Definition
Chronic Lymphocytic
Term
A trisomy at chromsome 18 causes what?
Definition
Edwards Syndrome
Term
A trisomy at chromsome 13 causes what?
Definition
Patau Syndrome
Term
A trisomy at chromsome 21 causes what?
Definition
Down Syndrome
Term
What are the five differences between meiosis and mitosis?
Definition
1)Meiosis is a reductional division
2)Meiosis produces genetic variation
3)Meiosis has two nuclear divisions
4)Meiosis can only occur in diploid cells
5)Meiosis can only occur in gamete producing cells
Term
Why can assexual reproduction happen twice as fast?
Definition
All of the individuals can produce offspring
Term
What is the advantage of sex?
Definition
Produces variation which allows the population to survive better when environmental changes occur
Term
Which strain of yeast has a faster growth in harsher conditions, sexual or assexual?
Definition
Sexual yeast
Term
What is the Protenor Mode of Sex Determination?
Definition
Males have 13 chromosomes with one X chromosome and females have 14 chromosomes with two X chromosomes and so sperms produce either 7 chromosomes or six
Term
What is the Lygaeus Mode of Sex Determination?
Definition
Females have 12 autosomes with two X and males have 12 autosomes with one X chromosome and one Y chromosomes and the sperm produce 6 autosomes with either an X or a Y
Term
What is the heterogametic sex?
Definition
The sex that produces one of each sex chromosome
Term
What is the homogametic sex?
Definition
The sex that produces two of the same sex chromsome
Term
How do we distinguish between homgametic and heterogametic males?
Definition
XY and ZZ
Term
How do we distinguish between homgametic and heterogametic females?
Definition
XX and ZW
Term
What is caused by the genotype XXY?
Definition
Klinefelters Syndrome
Term
What genotype causes Klinefelters syndrome?
Definition
XXY
Term
What is caused by the genotype XO?
Definition
Turners Syndrome
Term
What is the genotype that causes Turners Syndrome?
Definition
XO
Term
What did Turners and Klinefelters syndrome prove?
Definition
That the Y chromosome determined maleness
Term
Where did the Y chromosome originate?
Definition
As a full size chromosomal pair with the X chromosome
Term
What does the Y chromosome code for?
Definition
26 male fertility proteins
Term
What does PARs stand for?
Definition
Pseudoautosomal regions
Term
What do the PARs on the Y chromosome do?
Definition
Synapse with the X chromsome
Term
What does MSY stand for?
Definition
Male specific region
Term
What does the MSY on the Y chromosome do?
Definition
It doesn't synapse with the X chromsome
Term
What does the SRY on the Y chromosome do?
Definition
Produces TDF that creates the testis in the embryo
Term
What does SRY stand for?
Definition
Sex determining region
Term
What does TDF stand for?
Definition
Testis determining factor
Term
What environmental factor can affect sex determination in some reptiles?
Definition
Temperature
Term
How can temperature affect sex determination?
Definition
It controls enzymes and inhibitors involved in making males and females
Term
What is dosage compensation?
Definition
The removal of one X chromosome in females
Term
What are inactivates X chromosomes called?
Definition
Barr bodies
Term
Why does dosage compensation occur?
Definition
So that the female does not get twice the dose of her X chromsome
Term
What are the two examples of X-Mosacism in humans?
Definition
Anhidrotic Ectodermal Dysplasia and Red/Green Colour blindness
Term
What is Anhidrotic Ectodermal Dysplasia?
Definition
X-linked mutation that causes the absence of sweat glands
Term
What is lyonization?
Definition
The belief that inactivation of the X-Chromosome is random at an early point in development and then all cells have the same number of activated X-chromosomes
Term
What specifically deactivates the X-Chromosome?
Definition
The X-inactivation centre
Term
What two non-coding RNA transcripts are produced from the XIC?
Definition
Xist and Tsix
Term
What does Xist do?
Definition
Coats one X Chromosome to cause it condense into heterochromatin
Term
What is heterochromatin?
Definition
Densely compacted inactivated X-chromosome
Term
What percentage of genes of the inactivated X-chromosome escape inactivation?
Definition
15%
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