Abstract
The three parts of nucleotide are as follows:
1 Structure of DNA/RNA
The three parts of nucleotide are as follows:
1. Nitrogen-containing bases:
◦ purine:
— fused nitrogen-containing ring
— include adenine and guanine
◦ pyrimidine:
— single nitrogen-containing ring
— include cytosine, thymine and uracil
◦ DNA: adenine, guanine, cytosine and thymine
◦ RNA: adenine, guanine, cytosine and uracil
2. Pentose (5-carbon sugar)
◦ DNA: deoxyribose
◦ RNA: ribose
3. Phosphate: linked to pentose by phosphodiester bond
2 Nucleotide
basic structural unit of DNA/RNA:
◦ DNA: 100 million nucleotides; double-stranded helix
◦ RNA: 100–1000 nucleotides, single stranded
triplet nucleotide = codon = produces a single amino acid:
◦ one amino acid can have several codons
◦ one codon can produce only one amino acid
two ends:
◦ five-prime end: phosphate attaches to C5 of pentose
◦ three-prime end: hydroxyl attaches to C3 of pentose
base pairing:
◦ A-T (two weak hydrogen bonds, DNA)
◦ C-G (three weak hydrogen bonds, DNA)
◦ A-U (three weak hydrogen bonds, RNA)
3 Types of RNA
messenger RNA (mRNA): carries codon
transfer RNA (tRNA): carries anticodon and single amino acid
ribosomal RNA (rRNA): assembles amino acids
4 DNA Replication
1. DNA double helix unwinds as helicase breaks down hydrogen bonds and forms replication fork
2. DNA polymerase adds nucleotides to the leading strand (oriented 3-prime to 5-prime)
◦ polymerase travels from 5-prime to 3-prime to form a new strand continuously
3. DNA polymerase adds nucleotides to lagging strand (oriented 5-prime to 3-prime)
◦ polymerase travels from 5-prime to 3-prime to form a new strand, but in segments (called Okazaki fragments)
◦ DNA ligase joins the Okazaki fragments together
4. This process is performed at many points on DNA simultaneously to save time
5 Process of DNA Synthesising Protein
1. Transcription: DNA is copied into mRNA
2. Gene splicing
3. Translation: mRNA translates into amino acids into protein
4. Protein structure formation
5. Posttranslational modification
7 Gene Splicing
removes introns (noncoding sequences) and joins exons (protein-coding sequences)
alternative splicing: single gene translated into many proteins with different functions
8 Translation
1. tRNA carries anticodon to pair onto codon on mRNA
2. tRNA releases amino acid as anticodon attaches to codon
3. Ribosome (containing rRNA + proteins) carries the growing polypeptide and releases rRNA
4. Ribosome falls off after polypeptide completed
5. This process occurs at many points on mRNA simultaneously to save time
9 Protein Structure Formation
1. Primary structure: initial polypeptide strand
2. Secondary structure: folding into chains (alpha chain) or sheets (beta sheet) via hydrogen bonds
3. Tertiary structure: folding into final structure via hydrophobic interaction + disulphide bonds
4. Quaternary structure: multiple polypeptides combine into multimeric proteins
11 Chromosome
cells and number of chromosomes:
◦ somatic cells (most of the body): 46 chromosomes or 23 pairs (diploid); identical in body
◦ germ cells or gametes (ovum and sperm only): 23 chromosomes (haploid); nonidentical due to recombination
◦ autosome: first 22 pairs (numbered 1–22); numbering based on decreasing chromosome length
◦ sex chromosomes: twenty-third pairs are X and Y: XX (female), XY (male)
shape of chromosomes
◦ short arm of chromosome: p arm
◦ long arm of chromosome: q arm
◦ metacentric chromosome: short and long arm equal length (centromere near middle of the chromosome)
◦ submetacentric chromosome: one arm longer than the other (centromere closer to one side of the chromosome)
◦ acrocentric chromosome: one arm much longer than the other (centromere at top of the chromosome)
◦ isochromosome chromosome: unbalanced, with duplication of the arms, which are mirror images resulting in two copies of either the long arm or the short arm (simultaneous duplication and deletion of genetic material)
◦ chromatid: single strand of a chromosome (chromosomes in somatic cells come in pairs)
◦ centromere: special DNA sequence where the two sister chromatids link
◦ telomere: repetitive nucleotides at the end of chromosomes; protects end of chromosome (like plastic tips on shoelaces)
◦ histone: protein that DNA wraps around to condense into chromosomes (like spools for thread)
12 Genes
definition: stretch of DNA sequence, which codes for a specific protein
human genome: 20 000 genes
Stage | Description |
---|---|
Interphase |
|
Prophase | Chromosomes condense |
Metaphase | Mitotic spindles captures all chromosomes aligned at centre of cell |
Anaphase | Sister chromatids separate from each other to opposite poles |
Telophase |
|
13 Mitosis
occurs in somatic cells
the aim is to produce identical diploid cells for cell reproduction
cytokinesis: the process of division into two cells; occurs in anaphase and telophase (see Table 19.1)
1 parent cell (23 pairs of chromosomes) [2 n] → 1 parent cell duplication → each paired chromatid separates to each daughter cell → 2 identical daughter cells (each with 23 pairs of chromosomes) [2 n + 2 n]
14 Meiosis
occurs in germ cells (gametes) only
the aim is to produce haploid cells, so that after fertilisation there will be 46 chromosomes (instead of 92 chromosomes)
meiosis I and meiosis II
14.1 Meiosis I
[n = haploid, 2 n = diploid]
1 parent cell (23 chromosomes) [n] → 1 parent cell duplication + recombination [2 n] → each paired chromatid moves into each daughter cell → 2 nonidentical daughter cells (each with 23 chromosomes) [n + n]
14.2 Meiosis II
2 nonidentical daughter cells (each with 23 chromosomes) [n + n] → splitting of paired chromatids into single chromatids, which moves into each final daughter cell → 4 nonidentical final daughter cells (each with 23 chromosomes) [n + n + n + n]
15 Spermatogenesis
produces four spermatozoa
Spermatogonium [n] → primary spermatocyte [2 n] → secondary spermatocyte (end of meiosis I) [n + n] → spermatids (end of meiosis II) [n + n + n + n] → spermatozoa (after differentiation) [n + n + n + n]
16 Oogenesis
produces one ovum and three polar bodies
polar bodies cannot fertilise (see Table 19.2)
Oogenesis | Arresting stage |
Primary oocyte | Prophase I (until puberty) |
Secondary oocyte | Metaphase II (until fertilisation) |
Oogonium [n] → primary oocyte [2 n] → secondary oocyte + 1 polar body (end of meiosis I) [n + 1 polar body] → secondary oocyte + 3 polar bodies (end of meiosis II) [n + 3 polar bodies] → ovum + 3 polar bodies (after differentiation) [n + 3 polar bodies]
17 Chromosome and Gene Abnormalities
See Table 19.3.
Chromosomal abnormalities | Gene abnormalities |
---|---|
|
|
18 Nondisjunction
See Tables 19.4, 19.5 and 19.6.
due to mistake in meiosis I or meiosis II
leads to trisomy and monosomy
risk increases with maternal age
Meiosis I | Meiosis II | |
---|---|---|
Mistake | Uneven spreading of homologous chromosomes | One pair of homologous chromosomes did not split |
End of meiosis I |
|
|
End of meiosis II |
|
|
Age | Risk |
---|---|
20 | 1/1500 |
30 | 1/900 |
34 | 1/500 |
36 | 1/300 |
40 | 1/100 |
42 | 1/60 |
45 | 1/30 |