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 Sep 16, 2019, 8:07 AM HirotoShishido
which malignancy is xeroderma pigmentosum characterized by a preposition to?malignant melanoma geneticsdermatology Sep 17, 2019, 5:06 AM 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
Li-Fraumeni syndrome cancersSBLAB
sarcoma,breast,leukemia,adrenal gland,bladder pathologygenetics May 13, 2019, 7:19 AM HirotoShishido
What predispose the patient to developing BRAF mutation, leading to malignant melanomaFormation of covalent bonds between adjacent pyrimidine bases
DNA lesions are caused by exposure to UV radiation and form bulky helix distortions that interfere with DNA replication. geneticsdermatologyAmboss level4 May 8, 2020, 12:32 PM HirotoShishido
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
In the United States, ☆pneumonia, bronchiectasis, and cor pulmonale account for most deaths due to CF. geneticsbiochemistryUWorld Apr 24, 2020, 10:41 AM HirotoShishido
series of gene mutations, which cause adenoma to carcinoma sequenceAPC inactivation: normal colon→ hyperproliferative epithelium
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 Apr 30, 2020, 8:22 AM HirotoShishido
☆☆diseases caused by frameshift mutation☆☆Duchenne muscular dystrophy(XR)
Tay-Sachs disease genetics Sep 17, 2019, 3:53 AM 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 Feb 22, 2020, 7:10 AM HirotoShishido
germline mosaicism
examplesmutation only in egg or sperm cells
if parents and relatives don't have the disease, suspect germline mosaicism
e.g)XR→Duchenne muscular dystrophy
AD→☆osteogenesis imperfecta genetics Dec 9, 2019, 7:55 AM HirotoShishido
which site of tRNA is amino acid bound to?Amino acids are covalently bound to the 3′ CCA of tRNA molecules.
(This reaction is catalyzed by aminoacyl-tRNA synthetase.)
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 Jun 3, 2020, 7:15 AM 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 May 30, 2020, 7:33 AM 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 May 1, 2020, 12:56 AM HirotoShishido
carrier frequency2pq(aA or Aa)= 2q(p≒1)
q=mutant allele frequency
q^2=the frequency of affected individuals geneticsUWorld May 14, 2020, 11:00 PM 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 May 15, 2020, 3:33 AM 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 Sep 23, 2019, 5:47 AM HirotoShishido
