Pack 14

SUBSTITUTION = NUCLEOTIDE REPLACED BY ANOTHER, CAN CAUSE FORMATION OF A STOP CODON, DIFFERENT AMINO ACID MAKING FINAL POLYPEPTIDE DIFFERENT

DELETION = CAUSES FRAME SHIFT MUTATION PRODUCING NON-FUNCTIONAL PROTEIN

ADDITION = EXTRA BASE INSERTED CAUSES FRAME SHIFT MUTATION

DUPLICATION = ONE OR MORE BASES REPEATED, SHIFT TO RIGHT

INVERSION = GROUP OF BASES SEPARATE AND REJOIN BACK TO FRONT ONLY ONE AMINO ACID AFFECTED

TRANSLOCATION = GROUP OF BASES SEPARATE AND INSERT INTO ANOTHER CHROMOSOME, SIGNIFICANT EFFECT ON GENE EXPRESSION

MUTATIONS = RANDOM OR CAUSED BY MUTAGENIC AGENTS E.G. RADIATION, CHEMICALS, CAUSE GENETIC DIVERSITY NEEDED FOR NATURAL SELECTION BUT CAN BE HARMFUL AQND CAUSE DISEASE LIKE CANCER

CELL DIFFERENTATION = EACH CELL DEVELOPS INTO A SPECIALISED STRUCTURE TO SUIT ITS ROLE, ALL CELLS DERIVED FROM ZYGOTE, ALL HAVE THE SAME GENES BUT ONLY CERTAIN GENES EXPRESSED AT A TIME, SOME PERMANENTLY EXPRESSED OR SUPPRESSED OR ONLY WHEN NEEDED, GENES PREVENTED FROM BEING EXPRESSED BY PREVENTING TRANSCRIPTION OR TRANSLATION

TOTIPOTENCY = CELL CAN MATURE INTO ANY BODY CELL E.G. FERTILISED EGG

STEM CELLS = UNDIFFERENTIATED DIVIDING CELLS CONSTANTLY BEING REPLACED DIVIDE INTO IDENTICAL COPY OF THEMSELVES (SELF-RENEWAL), INCLUDE EMBRYONIC, UMBILICAL CORD, PLACENTAL, ADULT (FOUND IN BODY TISSUES)

TOTIPOENT STEM CELL = FROM EARLY EMBRYO DIFFERENTIATE INTO ANY CELL

PLURIPOTENT STEM CELL = FOUND IN EMBRYO DIFFERENTIATE INTO ALMOST ANY CELL, MULTIPOTENT FOUND IN ADULTS INTO LIMITED CELL TYPES, UNIPOTENT FOUND IN ADULTS INTO ONE TYPE OF CELL, USED TO REGROW TISSUES

INDUCED PLURIPOTENT STEM CELL = FROM UNIPOTENT STEM CELLS GENETICALLY ALTERED TO MAKE THEM HAVE CHARACTERISTICS OF EMBRYONIC STEM CELL

TRANSCRIPTION FACTOR = INHIBITOR OF TRANSCRIPTION, MOVE FROM CYTOPLASM TO NUCLEUS, BIND TO SPECIFIC REGION OF DNA TO START TRANSCRIPTION

EFFECT OF OESTROGEN = DIFFUSES THROUGH CELL MEMBRANE AS LIPID SOLUBLE, BINDS TO RECEPTOR SITE ON TRANSCRIPTION FACTOR, CHANGES SHAPE OF DNA BINDING SITE ON TRANSCRIPTION FACTOR, TRANSCRIPTION FACTOR ABLE TO BIND TO DNA, TRANSCRIPTION BEGINS

EPIGENETICS = ENVIRONMENTAL FACTORS CAUSE HERITABLE CHANGES IN GENE FUNCTION WITHOUT CHANGING BASE SEQUENCE

EPIGNEOME = DETERMINES SHAPE OF DNA-HISTONE COMPLEX, SEQUENCE DOESNT CHANGE, DNA WRAPS AROUND HISTONES, CHEMICAL TAGS ATTACHED TO HISTONES DETERMINING THE SHAPE OF THE COMPLEX, INACTIVE GENES KEPT TIGHTLY PACKED, UNWRAP REGIONS OF ACTIVE GENES FOR TRANSCRIPTION

DECREASED ACETYLATION = REDUCES TRANSCRIPTION, INCREASES + CHARGE OF HISTONES, INCREASES ATTRACTION TO PHOSPHATE GROUPS ON DNA, STRONGER ASSOCIATION BETWEEN DNA AND HISTONES, TRANSCRIPTION FACTORS UNABLE TO BIND SO NO TRANSCRIPTION OF mRNA

INCREASED METHYLATION = REDUCES TRANSCRIPTION, METHYL GROUP BINDS TO CYTOSINE BASE ON DNA, NON-COMPLIMENTARY FIT WITH TRANSCRIPTIONAL FACTOR SO CANT BIND, ATTRACTS PROTEINS THAT CONDENSE DNA-HISTONE COMPLEX MAKING DNA INACCESSIBLE TO TRANSCRIPTION FACTORS SO NO TRANSCRIPTION

ASSOCIATION WITH HISTONES = WEAK LEADS TO LESS CONDENSE COMPLEX, EASIER ACCESS FOR TRANSCRIPTION FACTORS, STRONG GIVES MORE CONDENSED COMPLEX, HARD FOR TRANSCRIPTION FACTOR TO BIND

GENE ACTIVATION/SILENCING = EPIGENETIC PROCESSES CAN CAUSE ABNORMAL GENE ACTIVATION OR SILENCING THAT CAN POTENTIALLY CAUSE CANCER, IN HEALTHY CELLS NO METHYLATION NEAR PROMOTERS, IN CANCER CELLS THESE AREAS BECOME HIGHLY METHYLATED CAUSING GENES TO SWITCH OFF INEARLY STAGE OF CANCER

DRUGS = USED TO INHIBIT ENZYMES IN HISTONE ACETYLATION OR DNA METHYLATION, MUST BE CAREFULLY TARGETED 

RNA INTERFERENCE = AFFECTS TRANSLATION ON mRNA, DOUBLE STRNDED RNA HYDROLYSED BY ENZYME (DICER), FORMS TWO STRANDS OF SiRNA, ONE STRAND BINDS TO ENZYME AND PAIRS WITH COMPLIMENTARY BASES ON mRNA, ENZYME CUTS mRNA INTO SMALLER SECTIONS SO GENE CANNOT BE EXPRESSED AS NO POLYPEPTIDE CAN BE PRODUCED

CANCER = DISEASE CAUSED BY DAMAGE TO GENES REGULATING MITOSIS AND CELL CYCLE, USUALLY FROM MUTATION IN A SINGLE CELL

TUMOURS = MALIGNANT GROW RAPIDLY, DO NOT PRODUCE ADHESION MOLECULES SO CAN SPREAD TO OTHER BODY PARTS (METASTASIS) MORE LIFE THREATENING. BENIGN GROW SLOWLY, PRODUCE ADHESION MOLECULES SO DO NOT SPREAD, CAN BE LIFE THREATENING IF THEY DISRUPT FUNCTIONING OF VITAL ORGAN

PROTO-ONCOGENES = STIMULATE CELL DIVISION AND CAN MUTATE INTO AN ONCOGENE THAT IS PERMANENTLY ACTIVATED, CAN OCCUR IF RECEPTOR PROTEINS ON CSM IS PERMANENTLY ACTIVATED OR IF ONCOGENE CODES FOR A GROWTH FACTOR THAT IS THEN PRODUCED EXCESSIVELY, GROWTH FACTOR FITS INTO RECEPTOR PROTEIN CAUSING RELEASE OF RELAY PROTEIN STIMULATING NUCLEAR PROTEINS TO SWITCH ON GENES FOR CELL DIVISION. 

TUMOUR SUPPRESSOR GENES = SLOW DOWN CELL DIVISION SO IF IT MUTATES IT BECOMES INACTIVE SO CELLS DIVIDE OUT OF CONTROL

HYPERMETHYLATION OF DNA = OCCURS IN PROMOTER REGION OF TUMOUR SUPPRESSOR GENES, INACTIVATES IT SO TRANSCRIPTION INHIBITED AND GENE IS SILENCED LEADING TO INCREASED CELL DIVISION

OESTROGEN CONCENTRATION = CAUSES PROTO-ONCOGENES OF BREAST TISSUE CELLS TO DEVELOP INTO ONCOGENES LEADING TO INCREASED CELL DIVISION

GENOME = ALL GENETIC MATERIAL IN AN ORGANISM

PROTEOME = ALL PROTEINS PRODUCED BY GENOME WHEN A GENE IS SWITCHED ON IN A TYPE OF CELL AT A CERTAIN TIME UNDER CERTAIN CONDITIONS

BIOINFORMATICS = COLLECTING AND ANALYSING COMPLEX BIOLOGICAL DATA SUCH AS GENOMES USING ALGORITHMS

WHOLE GENOME SHOTGUN SEQUENCING = INVOLVES CUTTING DNA INTO SMALL SEQUENCES, USING COMPUTER ALGORITHM TO ALIGN OVERLAPPING SEGMENTS, AND ASSEMBLING THE ENTIRE GENOME

SINGLE NUCLEOTIDE POLYMORPHISMS = ARE SINGLE BASE VARIATIONS IN GENOME ASSOCIATED WITH DISEASE AND DISORDERS

HUMAN MICROBIOME PROJECT = SEQUENCING PROKARYOTES AND SINGLE CELLED EUKARYOTES ASSOCIATED WITH HUMANS TO HELP CURE DISEASE BY IDENTIFYING DNA SEQUENCES OF PATHOGENS ANTIGENS FOR USE IN VACCINES, LEARN ABOUT METABOLISMS AND FIND GENES FOR USE OUTSIDE OF HUMANS

DETERMINING PROTEOME = EASIER IN PROKARYOTE AS THEIR DNA IS NOT ASSOCIATED WITH HISTONES AND THERE IS NO NON-CODING DNA. IN MORE COMPLEX ORGANISMS IT IS HARDER AS THERE ARE NON-CODING GENES, MANY GENES INVOLVED IN REGULATING OTHER GENES, ONLY 1.4% OF GENES CODE FOR PROTEINS, SLIGHT VARIATONS OF DNA SEQUENCES BETWEEN INDIVIDUALS

ELECTROPHORESIS = SEQUENCED DNA, FIRST IT IS CUT UP AND PLACED IN GEL, ELECTRICAL CURRENT RUN THROUGH GEL, SHORTER PIECES MOVE TO BOTTOM FASTER THAN LONGER HEAVIER PIECES, COMPARE POSITIONS OF DNA TO A DNA LADDER OF KNOWN LENGHTS

SEQUENCING TECHNIQUES = HAVE BECOME AUTOMATED AND FASTER SO LONGER STRANDS OF DNA CAN BE SEQUENCED