Survival guide Flashcards
Leading strand replication
Polymerase
RNA
ribose, uracil
What does the DNA helix wrap around?
Positive histone octomer
Lagging strand replication
Ligase and Ozaki fragmments
1 rosette
6 loops
1 coil
30 rosettes
1 sister chromatid
10 coils
Chromosome
2 chromatids
Prophase
Chromosomes condense and form part of the mitotic spindle
Metaphase
Chromosomes line up in the centre of the dividing cell. Microtubules attach to each chromosome centromere via the kineticore.
Anaphase
The duplicated chromosomes are separated by contraction of the microtubules.
Telophase
The chromosomes reach the poles of the cell, and the two cells separate (Cytokinesis).
The chromosomes decondense and form part of the nucleus once more.
When does recombination occur in meiosis?
Prophase in meiosis 1
Recombination in meisosis
Homologous chromosomes pair and there is crossing over between the homologous chromatids.
Meiosis 2
Second round of division to make 4 haploid daughter cells
How many chromosomes in meiosis 1 cell
Double normal
Acrocentric chromosome
Only satellite DNA on the p arm
Which phase are chromosomes visualised in?
Metaphase
Balanced chromosome complement
Normal amount of each chromosome
Karyotype format
47 XY +21
Most common cause of ansuploidy
Nondisjunction
Translocation types
Robertsonian
Reciprocal
Which arm is lost in Robertsonian translocations?
p
22.q11.2
22 - chromosome
q - arm
1 - region
1 - band
2 - sub band
FISH steps
Complementary
DNA/RNA probe
Denaturation: Nicks are created in the DNA
Hybridisation: Nucleotides with a Fluorophore attached are incorporated into the strand
What is FISH used for
Chromosomal abnormalities in cancer
What do chromosomal microarray dots show?
Strong Patient DNA
Binding - Duplication
Normal Quantity of
DNA
Weak Patient DNA
Binding - Deletion
Is CMA or karyotyping higher resolution?
CMA
X inactivation mechanism
Starts at the Xist gene on one of the two X chromsomes in a cell
This expresses a large RNA molecule that coats the chromosome
Condensation of the inactive chromosome into heterochromatin, supressing gene transcription
Inactivation transforms the chromosome into a _____ body.
Barr
When is the X inactivation pattern removed?
Germ cell formation
Splicing turns…
pre mRNA to mRNA.
Splicing
Small Nuclear Ribonucleoproteins (SNRPs) recognise specific RNA sequences (called Motifs) forming a spliceosome.
SNRP examples
Splice Acceptor
Splice Donor
Lariat sequences
What does the spliceosome contain?
small nuclear RNAs (U1 - U6)
How is the Lariat loop formed?
Chemical reaction cleaves the 5’ end of the intron from its upstream exon and attaches it to the branch point, forming a loop called a lariat
tRNA structure (clockwise)
Acceptor stem
T loop
Anticodon loop
D loop
Ribosome sites
APE
T loop function
Stabilizing the tertiary RNA structure by facilitating long-range interactions between regions
D loop function
Recognition site for the enzyme aminoacyl-tRNA synthetase
Acceptor stem function
Codes for amino acid sizes
Stop codons
UGA
UAG
UAU
Post translational modification examples
Folding
Transport
Side chains
Peptide assosciation
N-linked glycosylation
Attachment of an oligosaccharide to nitrogen affects folding and the quality control of proteins in the ER
Types of damage
Endogenous
Exogenous
Loss of nucleotide excision repair: example
Xeroderma pigmentosa
Loss of homologous recombination: example
BRCA1
Mendel’s law of independent segregation
Recombination in meiosis 1
Frameshift writing example
c.6delA
p.Lys2Asnfs
Stages if spermatogenesis
Spermatogonium
Primary spermatocyte
Secondary spermatocyte
Spermatids
Next generation sequencing
The sequences of the fragments are aligned against a reference genome sequence.
If there is a variant in one copy of the genome, half the sequences will show the genetic variation compared to the reference sequence.
X chromosome
153 million base pairs
Y chromosome
58 million base pairs
Multiple mitochondria
Multiple copies of the mitochondrial genome in each cell
Activator protein binds to…
Enhancer region
How is methylation passed on to daughter cells?
DNA methyltransferase 1 (DNTM1) at mitosis
How does methylation prevent transcription?
Prevents binding of transcription factors and indirectly causes deacetylation of histones
Yippee!