genome annotation
強力な方法ORF(open reading frame) scanning
ab initio gene prediction
are not enough
→homology search(コドンがエキソンか否かを調べる) genetics HirotoShishido
Cri-du-chat syndrome
etiology
symptoms
diagnosis80-85% de novo deletion on short arm of chromosome5
10% deletion inherited from a parent with a balanced translocation
specific symptom for cystic fibrosis(CF), cause of deathalmost all full-term infants with meconium ileus( by inspissated=dehydrated meconium)are eventually diagnosed with CF
polycistronic mRNAa single mRNA molecule which codes for ☆more than one protein is reffered to as a polycistronic mRNA, and while most prokaryotic mRNA molecule are polycistronic, eukaryotic mRNA is rerely polycistronic geneticsbiologyUWorld HirotoShishido
molecules that recognize the stop codon and halt translation(eukaryotic) releasing factor 1 (eRFs)
eRFs binds to the ribosome and stimulate release of the formed polypeptide chain and dissolution of ribosome-mRNA complex geneticsUWorld HirotoShishido
germline mosaicism
examplesmutation only in egg or sperm cells
if parents and relatives don't have the disease, suspect germline mosaicism
sequence of telomerestelomerase(reverse transcriptase(RNA dependent DNA polymerase))adds DNA(TTAGGG) to 3' ends of chromosomes to avoid loss of genetic material with every duplication
origins of replicationParticular consensus sequence in genome where DNA replication begins.
May be single (prokaryotes) or ☆multiple (eukaryotes). geneticsbiologyUWorld HirotoShishido
what fibrillin-1 does?/ where is it seen?fibrillin is a glycoprotein that ☆forms a sheath around elastin=microfibrils
microfibrils are abundant in ☆blood vessels(eg. aortic media), periosteum, and the suspensory ligaments of the lens geneticsUWorld HirotoShishido
in what locations the mutation which prevent the binding of a certain protein to lts regulatory sequence occur?(lac l→CAP site→Promotor→Operator→lac Z→lac Y→lac A)
operator locus
(a certain protein=repressor protein(product of the lac l gene))
this mutation results in increased transcription of the genes of the lac operon in lactose-deficient media, although the presence of glucose will prevent maximal transcriptional activity geneticsbiologyUWorld HirotoShishido
carrier frequency2pq(aA or Aa)= 2q(p≒1)
q=mutant allele frequency
q^2=the frequency of affected individuals geneticsUWorld HirotoShishido
locations of mRNA processingnucleus
・capping of 5' end
・polyadenylation 3' end
・splicing out of introns
cytoplasm
・quality control(☆interaction with Processing(P) bodies)
P bodies
①decap and degrade unwanted mRNAs
②☆store mRNA until needed for translation
③aid in translational repression by miRNAs (related to siRNAs) geneticsbiologyUWorld HirotoShishido
three types of Ehlers-Danlos syndrome
mutation(deficiency in proteolytic processing)
・hypermobility type(the most common, genetic variation)
・classic type(joint and skin symptoms, mutation in type Ⅴ collagen)
・vascular type(fragile vessels, muscles, organs that are prone to rupture, deficient type Ⅲ procollagen) geneticsbiochemistry HirotoShishido
