Professional Documents
Culture Documents
genomics
www.gsi.hu
oncogene16
Inherited features
JS Bach and his sons Carl Philipp Emanuel, Johann Christian, Wilhelm Friedemann, and Johann Christoph Friedrich
Cleopatra
Elongated
skull
2m/nucleus
Homologous sequences
CpG islands
Regions of DNA of at least 200 bp in length that have a G+C content >50%.
CpG islands are typically found in or near approximately 40% of promoters of
mammalian genes
G
guanine
http://www.mad-cow.org/exon2.html
E. coli
Drosophila
bakers yeast
Arabidopsis thaliana
mouse
Basic terms
nucleoside
32
nucleotide
pyrimidine
purine
DNA
5
DNA
Chromatin
(interphase)
Scaffold protein
(e.g.. topoisomerase
II)
Chromatin
Cell cycle
c
c
Chromatin chromosome
Pro
chromatin
Meta
Ana
Telo
chromatin
http://www.sciencedirect.com/science/article/pii/S0091679X08004238
chromatin chromosome
Chromosome
Chromosome
1 sister chromatid=
1 DNA molecules
2 DNA olecules
Chromosome
46 /human
somatic cell
ALAPFOGALMAK
Basic terms
Gene: the unit of inheritance, part of the DNA or RNA
Locus: location of a given gene on a chromosome
Allele: gene variant at a given locus
Wild type allele: the most frequent variant of a given gene in nature
Genotype: genetic composition characteristic for an individual or a locus
Phenotype: Measurable and observable features of a cell or and
individual
paternal
maternal
23 pair/somatic cell
maternal
Basic terms
Homozygote: identical alleles at the same loci of the chomosome pair
Heterozigote: different alleles at the same loci of the chomosome pair
Hemizigote: carries only a single copy of the gene
Dominant allele: a gene variant that phenotypically always results in a
given chracateristics (even in heterozygotes)
Recessive allele: a gene variant that manifests phenotypically in homoand hemizygotes only
Possible genotypes: AA, Aa, aa
Ploidy
Ploidy refers to the number of homologous chromosomes of a cell. If a
cell contains a single set of chromosomes only, then it is haploid, if it has two
sets of chromosomes, then it is a diploid one.
DNA replication
DNA replication
Cell division
MITOSIS
MEIOSIS
92 DNA
92 DNA
92 DNA
I.
46 DNA
II.
46 DNA
46 DNA
23-23 DNA
23-23 DNA
Gregor Mendel
(1822-1884)
Mendels laws
Law of uniformity
1865
49
The genome
Mitochondrial
Nuclear
(coding)
Transposons
Barbara McClintock
1983, Nobel prize
Regulation of transcription
Chromatin
heterochromatin
euchromatin
RNA polymerases
Transcription
Transcription
RNA maturation
Alternative splicing
Alternative splicing
RNA splicing
Extracellular RNAs
http://circres.ahajournals.org/content/110/3/483.figures-only
3. Comma-free, non-overlapping
4. Almost completely universal
5. Wobble effect
(Francis Crick)
6. Unambiguous
(1 codon encodes for 1 amino acid
only)
Wobbling effect
Posttranslational modifications
Posttranslational modifications
Rosalind
Franklin
1865
Gregor
Mendel:
genetika
trvnyei
Maurice
Wilkins
2012, India
2008, Korea
2010, USA
2007, Canada
http://www.nature.com/encode/
Major result:
Presumably a much larger proportion of the human DNA is
active than what we thought previously:
the majority of the non-coding regions participate in regulation
of the expression of the coding 1%
TOOLS
PCR: 1 million fold amplification of
segments of DNA within a few hours
guide RNA+
CAS9 enzyme