Gene Expression Word Stimulants Flashcards
Gene mutation
Sequence of bases incorrectly copied during DNA replication
Spontaneously in DNA replication
Insertion
Bases added
Deletion
Bases lost
Duplicated
Bases repeated
Invertion
Turned around
Substitution
Copied wrongly
Nucleotides replace each other
Translocation
Bases separated
Inserted into different chromosome
Point mutation
Single base pair involved
Frame shift
Amino acid sequence changed downstream of point mutation
Significantly effects structure/function of polypeptide
Deletion
Insertion
Silent mutation
Degenerate nature of genetic code
Amino acids have 1+ codons
While polypeptide not changed
Substitution
Mutagen
Increased mutation rate
Environmental factor
Ionising radiator (strips electrons from atoms in DNA molecule)
Chemicals (Alkylation agents - transfer methyl/ethyl group to dna molecules)
Totipotent
Cells giving rise to al cell types
Zygote-cells of first few motorists divisions
Pluripotent
Totipotent descendent
Produce most but not all cells of organism
Multipotent
Adult stem cells
Differentiate into limited number of cells
Unipotent
Adult
Differentiate into single type of cell
Derived from multipotent
Differentiate
Only some genes expressed - synthesise into different polypeptides (type of cell); determines development pattern
Specialised cell types - enable particular function
Stem cells
Differentiate into different cell types
Divide continually by mitosis > new generations of cells
Stem cell therapy
Pluripotent stem cells
Transplanted
Tissue damaged beyond self repair
Embryonic stem cell issues
Ethical
Oestrogen properties
Steroid hormone
Lipid soluble - pass across phospholipid bi layer of target cells
Not transcriptional factor itself
Oestrogen > complex
Binds to cells with protein receptor
Oestrogen-receptor complex (cytoplasm > nucleus)
Complex binds to specific chromosomal protein DNA sequence
Oestrogen transcription
mRNA transcribed (nucleus > cytoplasm)
Binds to ribosome
Translated to polypeptide
Alters function of target cell (new synthased polypeptide chain)
siRNA structure
Small interfering RNA
Short double stranded RNA
20 nucleotides long
siRNA purpose
Small interfering RNA
Help regulate which DNA is active / how active
Causes RNA interference - prevents mRNA translation (silences)
Artificial siRNA
Complementary to mRNA of genes
Silence specific genes
Stop tumour - Oncogene stopped - slow mitosis rate
Gene silencing
siRNA + different protein > RNA induced silencing complex
RISC scans mRNA content
siRNA unwinds - guide strand combines with complementary DNA - mRNA breaks (catalysed)
Prevents translation
Epigenetic
Study of inherited variations in phenotypes
Result of alterations in gene expression caused by environmental factors
Doesn’t change DNA sequence
Genome and associated epigenome inherited
Markers
Atom groups - bind to DNA and associated histones
Directly/indirectly modifies DNA activity
Inherited by offspring (alterations in gene expression)
Epigenome
Formed from markers
Directly / indirectly modified DNA activity
Reset - reproduction but markers&histones could be inherited
Epigenome changes
Gene expression altered
Lifestyle
Environmental factors
Methylation
Transfer of methyl groups to DNA
Increase - inhibits gene transcription
Directly modified activity
Methylation - Directly modifies activity
condense DNA (histone combinations- transcription factors can’t access DNA) Stopping transcription factors from binding to DNA
Methylated gene Promotor
Process stimulated by gene expression promoted
Methylated gene Suppressor
Process inhibited by gene expression is inhibited
Aceylation
Transfer of acetyl groups of histones
Indirectly modified DNA activity
Acetylation - indirectly modified DNA activity
Alters degree of attraction (decreases)
Negatively charged phosphate group
Positively charged histone
Increase of Acetylation
Gene switched on
Decrease attraction
DNA more accessible to transcription factors
Decrease of acetylation
Gene switched off
Deacetylation
Increases attraction (increased positive charge of histones)
DNA less accessible to transcription factors
Epigenetic therapy
Target cancer cells
Diagnostic test
Identify level of DNA methylation and acetylarion
Carinogens
Mutations causing cancer
Mutations in gene controlling cell division
Cancer tumour
Cell division out of control
Benign tumour
Does not spread Slower growth Capsule No vessel invasion No necrosis Intact skin surface
Malignant tumour
Spreads - metastasis Faster growth No capsule Vessel invasion Necrosis (death of most/all cells) Uleration of skin
Protoncogenes
Encode transcription factors
Stimulate normal cell division
Tumour suppressor genes - normal
Encode transcription factors (inhibit cell division)
Attach cells together - anchor in proper place
Repair damaged DNA before replication
Tumour suppressor genes - mutated
I activated
Cells proliferate
Methylation
Cytosine accepts methyl group (guanine catalysed)
CGCG vulnerable
Inhibits transcription - prevents transcription factors binding , attract proteins that prevent DNA unwinding from histones (deaceylation), transcription factors not able to access DNA
Activated oncogenes (over express transcription factors)
Hyper methylation
Increased methylation
Promotor revisions of tumour suppressor genes - genes inactivated , transcription inhibited
Transcriptional factors switched off - silenced , cell division increased
Oestrogen levels/great cancer
Increase post menopause- produced by breast fat cells
Increase causes increased cancer risk
Tumour increases/produces oestrogen (more cancer cells)
Produced by white blood cells responding to non-self antigens on tumour cells
Genome
All DNA in cells of organism
Genomics
Studying genomes
Determine sequence of bases of whole genomes
Identifying genes and locating on chromosomes or
Bioinformatics
Interpret genome info
Maths and super computers
Bioinformatics discover
Which genes express which proteins
Interactions between genes (epistasis)
Interactions between genes and environment (epigenetics)
Benefits of bioinformatics
Drugs tailored to individual DNA (pharmagenomics, reduced adverse reactions)
Treatments specific to genome of different cancer types
Increase food available (crops/livestock breeding)
Better understanding of fundamental principles of biology
Proteome
All proteins expressed by genome
Transcriptional factors
Enzymes
Structural proteins
Proteomics
Study of protein structure
Study role of proteins in molecular biology
Determine proteome
Human proteome project
Bacteria - straight forward (no introns), plasmid DNA
Eukaryotic- histones (DNA bound proteins); mostly introns , difficult to determine expressed
Chain termination
Method used to determine bad sequence
Short strand of DNA
Shot gun sequencing
Combined with chain termination Longer DNA strand sequencing DNA fragmented (restriction enzymes) Sequenced to get reads Repeated to obtain overlapping reads
Next generation sequencing
+shotgun + chain termination
More efficient - millions of reads a day
Oncogenes
Mutated protoncogenes
Increased production/activity of transcription factors
Over stimulated cell division
Cell proliferate