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telomeres and centromeres
-classified as heterochromatin (transcriptionally silenced)
-highly repetitive DNA, clusters of 100,000s to millions of tandem repeats < 10bp length, also called satellite DNA
telomeres
-consist of specific repetitive DNA sequences and don’t contain genes
-tandem repeats of A or T followed by several G’s
-sequence of repeats is specific to each species
-maintain integrity of chromosomal ends and protect the ends of the chromosomes to prevent chromosome fusion
specific structures occur at the telomeres
the G-rich 3’ overhang folds over and forms a loop at the end of the telomere (t-loop) by intermolecular H-bonding with the complementary strand
chromosomes are differentiated by their length and centromere position
metacentric, submetacentric, acrocentric, telocentric
metacentric
centromere is in the exact middle of a chromosome
submetacentric
centromere is off-center
acrocentric
centromere is almost to the telomere, but the small arms are still visible
telocentric
centromere is close enough to the telomere that the small arms are not visible
eukaryotes have two major portions of their cell cycle
-mitosis is the portion where chromatin condenses into thread-like chromosomes are visible, align and separate into the nascent cells
-interphase is the time between one mitosis and the next, in interphase, the chromatin is diffuse
the cell consists of interphase and mitosis
-interphase chromosomes are relaxed and cannot be visualized in a microscope
-s-phase: DNA replication (chromosome duplication)
-mitotic and meiotic chromosomes are highly condensed and can be visualized in a microscope
after s-phase
-chromosomes consist of a pair of sister chromatids
-identical copies of each chromosome joined at the centromere
-each chromatid consists of double-strand DNA (ex: A and a and B and b are two different alleles of the same gene)
the mitotic cycle
-G1 + S + G2 = interphase
-mitosis = prophase + prometaphase + metaphase + anaphase + telophase
-cytokinesis = cell division
G0 phase
stable, nondividing period of variable length
G1 phase
growth and development of the cell; G1/S checkpoint
s phase
synthesis of DNA
G2 phase
preparation for division; G2/M checkpoint
prophase
chromosomes condense and mitotic spindle forms
prometaphase
nuclear envelope disintegrates, and spindle microtubules anchor to kinetochores
metaphase
chromosomes align on the metaphase plate; spindle-assembly checkpoint
anaphase
sister chromatids separate, becoming individual chromosomes that migrate toward spindle poles
telophase
chromosomes arrive at spindle poles, the nuclear envelope re-forms, and the condensed chromosomes relax
cytokinesis
cytoplasm divides; cell wall forms in plant cells
gamete fusion…
combines one set of human chromosomes with another
gamete fusion
-humans have 2 sets of 23 chromosomes (diploid) (1 from mom, 1 from dad)
-sperm and egg each contain 1 set of the we chromosomes (haploid)
-meiosis is the process of separating homologous chromosomes to create gametes
mitosis vs meiosis (mitosis)
-2 identical daughter cells are produced from 1 parent cell
-daughter cells have full set of homologous chromosomes
mitosis vs meiosis (meiosis)
-4 non-identical daughter cells from 1 parent cell
-daughter cells have half the parent cell’s chromosomes
-haploid daughter cells have no homologous chromosomes
mitosis =
equational division
meiosis =
reductional division
homologs and chromatids
-identical copies of each chromosome present after s-phase and held together at their centromeres
-each chromatid consists of double-strand DNA
meiosis I
-reductional division
-separation of homologous chromosomes (sister chromatids remain intact)
-number of chromosomes per cell reduced by half
meiosis II
-equational division
-separation of sister chromatids
-similar events as mitosis except the cell starts with half the number of chromosomes
crossing-over…
-during meiosis I results in genetic variation
-non-sister chromatids recombine (cross over) and create new combinations of alleles
meiosis I reductional division
-separation of homologous chromosomes
-chromsomes that have exchanged information are known as recombinants
somatic cells
-cells other than germ cells
-most types are diploid (non are haploid)
-never go through meiosis
-can undergo mutations (including recombination) and can have abnormal chromosome segregation (nondisjunction) during mitosis
germ cells
-precursors to gametes
-develop from specialized diploid cells
-located only in the gonads (testis and ovary)
-go through mitosis and meiosis only at specific stages of development
-the only cells that go through meiosis
spermatogenesis is…
-the process of sperm formation
spermatogenesis
-mitosis and meiosis occur continuously throughout adult life
-each testis contains thousands of spermatogonia and spermatocytes that enter and progress through mitosis and meiosis respectively
oogenesis is…
the process of egg cell formation
oogenesis
-mitosis occurs only during embryonic development and meiosis begins during gestation, but arrests in prophase I until menarche
-during ovulation, one 1°oocyte per month completes meiosis I to form a secondary oocyte and the 1st polar body (2°oocyte arrests in meiosis II, 1st polar body is degraded)
-meiosis II of secondary oocyte: resumes if sperm/egg fusion occurs and produces an ovum and the 2nd polar body and is not completed if fertilization does not occur (disintegrates)
nondisjunction
-abnormal chromosome segregation that results in abnormal chromosome numbers after cell division
-can occur in mitosis, meiosis I, or meiosis II
-can rest in inviable cells/gametes or inviable embryos
-can also result in abnormal chromosome numbers in viable individuals (trisomy21, down syndrome)