What is DNA
Molecule responsible for hereditary
Four bases + pairs
adenine, thymine, guanine, cytosine
A –> T
G –> C
two functions of DNA
1) replication 2) direct synthesis of proteins
Steps of replication
goal) pass genetic info to new cells
1) occurs during cell division
2) helix unzips separating base pairs
3) 2 strands unwind and each attract appropriate bases to construct its complement.
4) two identical DNA molecules are created
Steps of synthesis
Transcription: DNA is copied into mRNA.
mRNA leaves the nucleus and goes to a ribosome.
Translation: The ribosome reads mRNA in groups of 3 bases (codons).
tRNA brings matching amino acids.
Amino acids join together to make a protein.
central dogma
explains how genetic information flows inside a cell. flows from DNA to messenger RNA (mRNA) to
protein
Transcription
DNA is copied into mRNA.
The enzyme RNA polymerase helps match RNA bases to DNA bases
The mRNA then leaves the nucleus and goes to a ribosome.
Translation
The ribosome reads the mRNA in groups of three bases (called codons).
Each codon tells which amino acid to add.
tRNA brings the correct amino acids to the ribosome.
The amino acids join together to form a protein chain.
mRNA vs tRNA
mRNA – single stranded and carries coding sequence for protein
tRNA – transfers amino acids to ribosomes
codon
A sequence of 3 nucleotides on mRNA that carries the genetic code for an amino acid during protein synthesis.
anticodon
A sequence of 3 bases on tRNA that binds to the mRNA codon, ensuring the correct amino acid is brought to the ribosome.
introns
non coding region of gene thats removed during RNA splicing
exons
parts of genes that are spliced back together
alternative splicing
mRNA spliced to create different transcripts which are then translated into different proteins and is used to produce many proteins
General characteristics of the human genome
consists of about 3.2 billion base pairs; contains about 21,000 to 25,000 protein-coding genes, which range in size from 1000 bases to 2 million bases
three main surprises of the human genome project
1) most of the genome is non coding
2) we have small number of protein coding genes
3) two humans share 99.9% of DNA
Diff kinds of genetic variations in individuals
Sequence variation: A difference in the DNA base sequence (A, T, C, or G).
Example: A single base change → SNP (single nucleotide polymorphism)
Structural variation: A difference in the amount of DNA — extra or missing segments.
Types
Deletion: a segment of a chromosome is missing
Duplication: a segment of a chromosome is repeated
Organizational variation: A difference in how DNA is arranged or organized.
Types:
Inversion: a segment of a chromosome is reversed end to end
Translocation: segments of DNA are exchanged or rearranged between non-homologous chromosomes
Mutations
Occurs when mistakes are made in copying DNA and results in different alleles
Chars of human chromosomes
Total chromosomes: 46 (or 23 pairs)
Autosomes: 22 pairs → carry most of our genes
Sex chromosomes: 1 pair (XX or XY) : XX = female,XY = male
Centromere: The “pinched” center area, Has no genes, Holds the chromosome together during cell division
p arm:The short arm (above the centromere)
q arm: The long arm (below the centromere)
Banding patterns:
Each chromosome has unique light/dark bands used to locate genes
Example: Huntington’s disease gene → 4p16
Human vs animal chromosomes
Species Number of Chromosomes
Humans 46 (23 pairs)
Fruit flies 4
Mice 20
Dogs 39
Carp (fish) 52
Great apes (chimpanzee, gorilla, orangutan) 48 (24 pairs)
Somatic vs Gametes
Somatic = body cells, diploid (46)
Gametes = sex cells, haploid (23)
mitosis
cell division not involved in production of gametes
meiosis
occurs in the sex cells of ovaries and testes to produce eggs and sperm
Common Chromosomal problems
breaks that lead to inversion, deletion, duplication, translocation
inversion: a segment of chromosome is reversed end to end
deletion/duplication: segment of chromosome is deleted/duplicated
Translocation: parts between two nonhomologous chromosomes are rearranged