Genes, chromosomes and the genetic code Flashcards
What are the DNA double helix forms (4)
- A
- B
- Z
- depend on how hydrated the surrounding area is
What happens to DNA in a very aqueous environment (2)
- DNA coils up
- Sugar-phosphate backbone = hydrophilic with hydrophobic core
What is the size of DNA (4)
- full width of DNA molecule - 2nm
- Full length of DNA - 2m
- 10-11 full pairs in a twist
- Humans have over 3 billion bp (~2m of DNA) per each cell
What is Chargaff’s rule of nucleotide bases (3)
- Adenine - Thymine (DNA)
- Adenine - Uracil (RNA)
- Guanine - Cytosine
What is the genome like in prokaryotes (4)
- Single circular
- Chromosome in nucleoid
- Non essential genes in plasmids
- Genome is v compact, mostly coding genes
What is the genome like in eukaryotes (6)
- linear chromosomes
- 2 copies of each chromosome
- One set of chromosomes from each parent
- Contain mitochondrial genome
- Proportionally much smaller than DNA found in the nucleus
- Maternal inheritance
What is a genome (2)
- Whole of DNA sequence
- 3 billion base pairs - 25’000 coding genes
What are genes (2)
- code for something
- basic physical and functional unit of heredity
What are the types of genes (6)
- Structural - codes for polypeptide chains
- RNA - code for RNA molecules
- Regulator - regulate gene expression
- Pseudogene - dead, non-coding
- Exon - coding
- Introns - intervening, non-coding sequences
What are alleles
different forms of the same gene
What is the structure of genes (9)
- start at 5’
- Promoter region
- Transcription initiation codon on exon 1
- Translation initiation codon on exon 1
- Interon 1
- More exons and codons
- Translation termination codon
- Polyadenylation signal on end of last exon
- Transcription termination at 3’ end
How is DNA packaged (6)
- DNA double helix wraps around histone proteins = nucleosome
- Nucleosome + H1 histone = chromatosome
- Nucleosomes fold = 30nm fibre
- Loops are formed
- Fibres are compressed
- Tight coiling = Chromatid of a chromosome
What is a nucleosome (5)
- Fundamental unit of chromatin compaction
- Consists of DNA + nucleosome protein core
- 1.7 left hand super helical turns
- Nucleosome protein core = Histones (small basic proteins)
- Linker DNA = sections of DNA between nucleosomes
What are histones (3)
- Globular proteins
- 5 members in the family: H1, H2A, H2B, H3 and H4
- H3 & H4 are x2 in a histone.
How are chromosomes arranged in humans (6)
- Humans have 46 chromosomes in every somatic cell - DIPLOID
- 22 pairs of autosomes
- 1 pair of sex chromosomes
- karyotype is map of all the chromosomes arranged in size.
- Every cell has same genetic information
- GAMETES are reproductive cells and only have one set of chromosomes - HAPLOID
What is a genotype (2)
- genetic potential of an individual
- One gene codes for a trait, but there are different versions (alleles) of that gene
What is the phenotype (2)
- expression of the genotype as it interacts with the environment
- the detectable characteristics of organisms that can be determined by multiple alleles and the influence of the environment
What is epigenetics (3)
- Study of the changes in gene expression (phenotype) that is not due to change in genotype
- Change influenced by environment, age, lifestyle, disease state…
- Caused by chemical changes:
What chemical changes cause changes in gene expression (not due to genotype) (3)
- DNA (methylation of DNA)
- Gene silencing by non-coding RNA (ncRNA)
- Histone modification
What is transgenerational epigenetics
three generations at once are exposed to the same environmental conditions
What is the genetic code (6)
- 3 nucleotide sequence = CODON
- 1 CODON = 1 amino acid
- 4 nucleotides (A, U, C and G) in a 3 nucleotide code = 64 (43) combinations
- 20 essential amino acids
- DEGENERATE (multiple codons that mean the same amino acids)
- UNAMBIGUOUS (any codon will only mean one amino acid).
What is the start codon
AUG - MET
What are the stop codons (3)
UAA
UAG
UGA
What is a missense protein
the change of a single base pair causes the substitution of a different amino acid in the resulting protein.
What is a nonsense protein
a change in DNA that causes a protein to terminate or end its translation earlier than expected