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Ames test Strains inactive for BER and prone for entry if molecules TA100- sensitive for reversion by base pair substitution TA 1535/8 frameshift מוטגנים Mutagens חומרים כימייםChemical Agents קרינהRadiation ניידיםDNA אלמנטיםMobile Genetic Elements Barbara McClintock Ds (Dissociation) Ac (Activator) Insertion elements: insertion elements as mutagens gal- , due to insertion OR “disruption” REVERTANT: gal+ revertant, due to excision of IS1 Simple transposon (Ampicillin resistance) Composite transposon IS10 (tetracycline resistance) IS10 ISמקודדים רק לחלבונים הנדרשים לתנועה Tnמקודדים גם לחלבונים נוספים Conservative Replicative Animation 13_Replicative transposition Inexact excission of IS1 can also create gal- (Ampicillin resistance) -There are several different types of transposable elements including insertion elements (S1, IS2 .. ) and transposons (Tn1 Tn2…) -Many transposable elements transfer a resistance for antibiotic -Most of the transposable elements have inverted repeats (IR) at the end which can be observed under the microscope -Transposable elements are found on chromosome and plasmids -After insertion into new site the elements generates a short repeats- Replecative vs. conservative - • Transposons are much more common in eukaryotes. • Some eukaryote transposable elements transpose as in prokaryote but most use similar mechanism as the RNA viruses. LTR- long terminal repeat מוטגנים Mutagens חומרים כימייםChemical Agents קרינהRadiation אולטראסגולUltraviolet (UV) מייננתIonizing ניידיםDNA אלמנטיםMobile Genetic Elements Rearrangements Rearrangements Human Karyotype Lyse Cell and its Nucleus Karyotype- The entire chromosomes complement of an individual Organism or cell, as seen during mitotic metaphase Banding SKY-Spectral karyotype Chromocenter D C E F B A F E A B Since b+ and c+ are “missing”, the phenotype of b and c are “pseudo-dominant” or “display pseudodominance”: The genes ‘across from’ the deletion “display pseudodominance”. Inversions: Animation 17.1a Paracentric inversion does not span the • centromere Pericentric inversion does includes the • centromere היפוכים Inversions paracentric inversion The trouble with paracentric inversion: Animation 17.1b pericentric inversion היפוכים Inversions x cM x cM y cM No offspring are ‘counted’ when a crossover occurs in interval y- they all die map units look like x-y cM SO – with a heterozygote for an inversion: The apparent genetic distance between genes outside the inversion seems to be reduced by y Rearrangements Duplications Rearrangements Human hemoglobin gene family: The result of a series of gene duplications, followed by gene divergence. Thalassemias Thalassemia Thalassemia Philadelphia chromosome or Philadelphia translocation is a specific chromosomal abnormality that is associated with chronic myelogenous leukemia (CML). It is due translocation designated as t(9;22)(q34;q11), The fused bcr-abl protein interacts with the interleukin 3beta(c) receptor subunit. The bcr-abl transcript is constitutively active, i.e. it does not require activation by other cellular messaging proteins. In turn, bcr-abl activates a number of cell cyclecontrolling proteins and enzymes, speeding up cell division. Moreover, it inhibits DNA repair, causing and potentially causing the feared blast crisis in CML. Trinucleotide repeats Slippage during replication Rearrangements Reciprocal translocation chromosomes during meiosis: Animation 17.2b מעבר מאקרוצנטרי למטהצנטרי על ידי שבירה ואיחוי בצמחים לאחר הפריה עצמית החיצים מייצגים את נקודות השבירה בכרומוזומים. Animation 17.2c Second genetic consequence of translocations: Pseudo-linkage Human Karyotype – Trisomy 21 Lyse Cell and its Nucleus אי-הפרדה non- disjunction junction אי -הפרדה הפרדת – כרומ. חיבור Non-disjunction in Meiosis I: Animation 18.1a Non-disjunction in Meiosis II: Animation 18.1b Trisomy of 13 or 18 show severe physical and mental abnormalities Between few weeks and 130 days Patau Edwards Down מונחים *Polyploids-individual with more than two • chromosomes sets. i.e. Triploids-3n,tetraploid4n,pentaploid-5n,hexa…. *Monoploid- one chromosome set (not a haploid) • *Autopolyploid (chromosomes within species) vs. • allopolyploids (chromosomes from closely related species) *Aneuploidy- chromosomes number is abnormal, i.e. • trisomic; 2n+1, monososmic; 2n-1 and nullsomic; 2n-2. In haploid n+1 is disomic Monosomy: Karyotype minus 1 chromosome homolog חסר עותק (הומולוג) אחד של כרומוזום Nullisomy: Karyotype minus both chromosome’s homologs שני העותקים (הומולוגים) של כרומוזום אחד חסרים An example: In males X+Y X+Y X Y X+X X Y Y Y An example: In females X1+X2 X1 X1+X2 X2 X1 + X1 X1 X2 X2 X2 XXY - Kleinfeldter XO - Turner Animation 17.2c Second genetic consequence of translocations: Pseudo-linkage X:A=1 X:A=0.5 SxlisisOn off Sxl Splicing of dsx Male specific genes Y? O/o O-Orange o-Black. The white phenotype is due to other gene Sex-linked anhidrotic ectodermal dysplasia (absence of sweat glands in blue areas) XXX, XXY, XXYY מונחים *Polyploids-individual with more than two • chromosomes sets. i.e. Triploids-3n,tetraploid4n,pentaploid-5n,hexa…. *Monoploid- one chromosome set (not a haploid) • *Autopolyploid (chromosomes within species) vs. • allopolyploids (chromosomes from closely related species) *Homeologous- Partially homologous (common • ancestor) *Aneuploidy- chromosomes number is abnormal, i.e. • trisomic; 2n+1, monososmic; 2n-1 and nullsomic; 2n-2. In haploid n+1 is disomic Diploid Polyploid Tetraploid Octoploid Generation of monoploid Cold treatment Embrioyoid-a small dividing mass of monoploid cells Breeder – search for special phenotype of a/a b/b recombination A/a B/b Cold treatment a b monoploid colchicine Diploid 2n 4n Aneuploid and gene balance Usually aneuploids are not viable or • severely affected due to changes in gene balance. In a euploid the ration between genes is 1:1 whereas in aneuploid this balance is variable Autopolyploids the case of triploid in meiosis Three homologous chromosomes 3:0 2:1 As more chromosome we have the less chance to get viable gamete Polyploid with odd number of chromosome set are sterile or infertile Since their gametes and offspring are aneuploid Case for alloploids צנון כרוב Karpechenko’s experiment Non functional gamete Distribution of haploid chrmosome number in dicotyledonous The distribution above 12 show mainly even number suggesting doubling of chromosome sets. 6n=42 Nullisomics of modern (hexaploid) wheat Allele names according to phenotype amorph NULL R~ R~ hypomorph Wild type R R hypermorph R R neomorph R~ R~ Standard Dominant – Recessive Haploinsufficiency DS-dissociation at the site of the break Ac-Activator