post midterm Flashcards
3 laws of inheritance (mendel)
1) Law of Dominance
2) Law of Segregation
3) Law of Independent Assortment
Law of dominance
allels can be dominant or recessive
Law of Segregation
separation of alleles @ the level of the gametes
- Two alleles of a pair segregate or separate during gamete formation such that a gamete receives only one of the two factors
Law of Independent Assortment
The alleles of two different genes get sorted into gametes independently of one another (Mendel had selected traits that were on different chromosomes –> law not true when different genes are present on the same chromosome (passed on linked as a linkage group))
homologous chromosomes
chromosome from mom and chromosome for dad - code the same genes but may have different alleles on both
linkage group
if you have a particular trait, there may be another trait that is always associated with it
- competes with the Law of Independent Assortment
- different genes on the same chromosome can be passed on as a linkage group
Thomas Hunt Morgan
mutation recognized as mechanism for variation in populations
physical underpinning of the unit of inheritance
chromosomes
Genetic material in all
organisms
DNA
Building block for DNA
nucleotide
Nucleotide structure
- Phosphate
- Sugar (deoxyribose)
- Nitrogenous base (pyrimidine/purine)
pyrimidines
Thymine and Cytosine
purines
Adenine and Guanine
DNA structure
- sugar-phosphate backbone (phosphodiester bonds between hydroxyl on C3 of sugar and phosphate group on C5 of phosphate)
- anti-parallel strands
- H-bonding between complimentary bases
chargaffs rule
The Watson-Crick-Franklin Proposal
- DNA is composed of two chains of nucleotides.
- These two chains form a spiral pair of right-hand helices.
- The two chains are antiparallel, they run in opposite directions.
- The sugar-phosphate backbone is the exterior of the molecule, and the bases are interior.
- Bases are perpendicular to sugar-
phosphate backbone. - DNA chains are held together by
hydrogen bonds between bases (A pairs with T via 2 hydrogen bonds; Gand C pair via 3 hydrogen bonds) - Double helix width 2nm (diameter)
- Pyrimidines always paired with
purines. - Only A-T and C-G pairs fit within
double helix.
10.Molecule has a major groove and a minor groove.
11.Complete turn is 10 base pairs. - Complementary base sequences on each of the 2 strands.
allele
crossover
During cell division, the nuclear material is organized into visible “threads” called
chromosomes (chromatids are not visible)
transposons
genetic elements that can move from one genome site to another
5’ end of dna
- where the free phosphate is (lecture)
- has the fifth carbon in the sugar-ring of the deoxyribose or ribose at its terminus
supercoiled dna
- negative supercoiling: underwound (less than 10 base pairs in the complete turn) - compacts DNA and important in replication and transcription
- positive supercoiling: overwound (more than 10)
topoisomerases
change the level of DNA supercoiling
- Type 1: transient break in 1 strand of DNA duplex
- Type 2: transient break in both strands of DNA duplex (can also interlink or separate circular DNA)
DNA denaturation
DNA strands coming apart after applying heat
- heating causes an increase in UV light absorbance (absorbance depends on amount of base pairing)
- Melting temperature (Tm): halfway through shift in absorbance from low to high
- higher GC content (3 hydrogen bonds; stronger interaction) = higher Tm (more heat needed to separate)
DNA renaturation (reannealing)
Single-strand DNA reassociates
Nucleic acid hybridization
Complementary strands of
nucleic acids from different
sources –> hybrid molecules
- DNA sequencing, cloning,
amplification
PCR
Denature @ 95 - Anneal @ 68 - Elongate @ 72
- need primers and dNTPs
3 different types of DNA sequences with different reannealing rates
- Highly repeated fraction
- Moderately repeated fraction
- Non-repeated fraction
Highly repeated DNA sequences
(Tandem repeats)
Short sequences (few 100 nucleotides) + clustered + repeat over
and over again (arranged end-to-end ie. tandem); 1-10% of total DNA
Further subdivided:
- Satelite DNAs: short sequences that evolve rapidly
- Minisatelite DNAs: unstable, variable in population, DNA fingerprinting
- Microsatelite DNAs: aka short tandem repeats; small clusters, implicated in genetic disorders
Fluorescence in situ hybridization
(FISH)
- used to determine location of a gene/dna sequence on a chromosome/in genome
- denaturing dna and using fluorescent labelled probe to anneal to it and identify location
Moderately Repeated DNA Sequences
- variability in how many are present in the genome (20% to greater than 80% of total DNA depending on organism) and how frequently they are repeated (from a few times to tens of thousands of times)
- Some sequences code for gene products like RNAs or histones
- Most sequences lack coding function - interspersed throughout the genome (grouped into SI and ES (short interspersed elements or lines long interspersed elements)
Non-repeated DNA Sequences
- include genes with Mendelian patterns of inheritance, localize to particular site on particular chromosome
- DNA sequences that code for all proteins other than histones (globins, actins, myosins, collagens, tubulins, integrins, and most other proteins in a eukaryotic cell)
- less than 1.5% of human genome
- sequences not present in multiple copies (single copy)
polyploidization
more than 2 sets of chromosomes (as compared to haploid/diploid)
- common in plants (getting FULL set of chromosomes from both mom and dad - no meiosis)
- in animals: single celled embryo accidentally undergoes chromosome duplication and retains the DNA
Gene duplication
duplication of one or more copies of a gene or region of a chromosome - can occur through unequal crossing over
Unequal crossing over
Homologous chromosomes misalign and exchange genetic material at non-identical positions (results in one chromatid gaining extra genetic material (duplication) and the other losing it (deletion)) - role in evolution of multigene families (for example, protein families like alpha and beta tubulins)
transposition
particular dna sequences (transposable elements/transposons) could move around genome and insert into target sites randomly
- transposase: enzyme encoded in transposon that cuts the transposon and helps in its target site insertion
eukaryotes have
transposons (cut and paste) and retrotransposons (copy and paste)
retrotransposons
- get rna (transcription by RNA polymerase) –>
- get cDNA (reverse transcription to form single stranded cDNA) –>
- get double stranded DNA
human genome
20,000 genes
Alternative splicing
a single gene can encode a number of related proteins
explanation for small number of protein-Coding Genes in the Human Genome
- Alternative splicing: a single gene can encode a number of related proteins
- MicroRNAs: Noncoding RNAs (not coding for proteisn) that can have gene regulatory functions (can act on genes to produce different but related proteins)
- Proteins work together as complex networks rather than individually
Comparative Genomics
- if It’s conserved it must be important
- best way to identify functional sequences –> compare genomes of different organisms
Intergenic genome
Majority of genome lies between protein coding genes
Exons
The coding regions of a gene that are spliced together to form the final mRNA and translate into proteins.
An event in which offspring are produced that have twice the number of chromosomes in each cell as their diploid parents is called
Both polyploidization and whole-genome duplication
nucleosome
[organization of the chromosome]
DNA wrapped around histone
- nucleosomes further coil into a chromatin fiber, which further condense to form looped domains, which pack into chromosomes
nucleosomes
DNA + histone octamer (core complex)
- 146 bp supercoiled DNA wraps around histone twice
Histone octamer
- 4 histone heterodimers: 2 (H3+H4) + 2 (H2A + H2B)
Histone H1 (linker histone)
- binds linker DNA (connecting diff nucleosomes to each other to form the chromatin fiber)
- can be modified
histone structure
- globular region (histone fold) - alpha helices of proteins
- histone tail
- minor groove of dna faces histone
histone tail
- N-terminus of histone
- projects beyond wrapped dna helix too
- subject to modification
chromatin
- 30 nm chromatin fiber loop diameter (can be 80-100nm too)
- proteins involved in the nuclear scaffold might be creating dna loops (?)
- loops maintained by COHESION (also holds replicated dna molecules together during mitosis)
packing ratio of DNA
10,000:1
- chromosome length = 1 um
- length of contained dna = 1 cm
Euchromatin
loosely packed chromatin (interphase)
Heterochromatin
Tightly packed chromatin
- Constitutive heterochromatin
- Facultative heterochromatin
Constitutive heterochromatin
- always condensed; silent DNA (cuz so packed, its not available for the transcription machinery to get in there and transcribe genes - therefore FEW GENES)
- highly repeated sequences
- in centromeres, telomeres, distal arm of Y chromosome
Facultative heterochromatin
- can switch between condensed and relaxed (can be inactivated - changes with time, varies from cell to cell)
- example: X chromosome (Barr body) - throughout a woman’s lifetime, there will be one transcriptionally active X chromosome and one transcriptionally inactive X chromosome (inactive is Barr body)
barr body
- heterochromatic clump
- transcriptionally not active
x- inactivation process is random