Allele
two or more alternative forms of a gene at the same site on a chromosome, which determine alternative characters in inheritance
heterozygous
two different alleles regarding to a given character
homozygous
pair of identical alleles for a given hereditary character
compound heterozygous
the presence of two different mutant alleles at the same locus
hemizygous
only single copy of allele/gene in an otherwise diploid set, e.g. genes on X and Y chromosome in males
FOXO1
Forkhead box protein O1 (FOXO1)
—> is a transcription factor that plays important roles in regulation of gluconeogenesis and glycogenolysis by insulin signaling, and is also central to the decision for a preadipocyte to commit to adipogenesis.[6] It is primarily regulated through phosphorylation on multiple residues; its transcriptional activity is dependent on its phosphorylation state
DAF-16
DAF-16 is the sole ortholog (homologous gene/protein/organ … between species) of the FOXO family of transcription factors in the nematode Caenorhabditis elegans.[1] It is responsible for activating genes involved in longevity, lipogenesis, heat shock survival and oxidative stress responses.[2][3] It also protects C.elegans during food deprivation, causing it to transform into a hibernation - like state, known as a Dauer.[4] DAF-16 is notable for being the primary transcription factor required for the profound lifespan extension observed upon mutation of the insulin-like receptor DAF-2.[5] The gene has played a large role in research into longevity and the insulin signalling pathway as it is located in C. elegans, a successful ageing model organism
enhancer and silencer
operator
binding site for activator protein and binding site for repressor protein in Eukaryotes
binding site for regulatory protein in bacteria
POU domain
gesprochen POW setzt sich zusammen aus 3 TF Pit, Oct und Unc
Lyonization
is the process of inactivation of one of the two X-chromosomes in cells in female individuals
the inactivation of one X is achived by supercoiling into a structure known as a Barr Body
Lyonitation is random event in cells in early develeopement (blastula) thats why whole patches are one color in calico cats
Kinefelter Syndrome
Male individuals that inherit 2 X-Chromosomes and Y
a rare case where male cats can also become tortoiseshell
Epigenetics
Epigenetics is heritable changes in gene expression that occur without a change in DNA sequence
Nukleosome
Heterochromatin and Euchromatin
Euchromatin: Acetylated DNA and Histones are spread widely and Polymerases are able to bind
Heterochromatin: DNA/Histones are methylated resulting in a tightly packed structure, the Polymerases would be unable to bind
GPCRs
G-protein coupled recptors
—> convey many important biological signals and we constantly modulate their output with our habits
e.g. light (Rhodopsin) - Odorants - (nor)adrenalin - beta-blockers
example: adenosin receptor antagonist = caffeine [awake] and agonist = reservatol [tired]
Anoikis
Specific variant of intrinsic apoptosis initiated by the loss of integrin-dependent anchorage
—> if not invasive tumors possible
Efferocytosis
Mechanism whereby dead cells and fragments thereof are taken up by phagocytes and disposed.
cytokinesis
after chromosome segregation and nuclear division in cell cicle also the cytoplasm divides that is the cytokinesis
epistasis
the effect of one gene masks or modifies the effect of another gene at a different locus, influencing the expression of traits
e.g. daf-2 (dauer constitutive) and daf-16 (dauer defective) mutants
Baumeister:
Epistasis is a phenomenon in genetics in which the effect of a gene mutation is dependent on the presence or absence of mutations in one or more other genes, respectively termed modifier genes. In other words, the effect of the mutation is dependent on the genetic background in which it appears. Epistatic mutations therefore have different effects on their own than when they occur together. Originally, the term epistasis specifically meant that the effect of a gene variant is masked by that of a different gene.
mRNAs
rRNAs
tRNAs
messenger RNAs —> code for proteins
ribosomal RNAs —> form basic stucture of ribosomes and catalize protein synthesis
transfer RNAs —> adaptors between mRNA (triplets) and Aminoacids
snRNAs
snoRNAs
small nuclear RNAs —> function in nuclear processes such as splicing of pre-mRNA
small nucleolar RNAs —> help to process and chemically modify rRNAs
miRNAs
siRNAs
microRNAs —> regulate gene expression by blocking translation of specific mRNAs and cause their degradation
small interfering RNAs —> turn off gene expression by directing the degradation of selective mRNAs and the establishment of compact chromatin structures
piRNAs
lncRNAs
piwi-interacting RNAs —> bind to piwi proteins and protect the germ line from transposable elements
long noncoding RNAs —> many serve as scaffolds, regulate diverse cell processes e.g. X-chromosome inactivation
Zuletzt geändertvor einem Jahr