initiation of translation of prokaryotic/ eukaryoticThe Kozak consensus sequence is analogous to the Shine-Dalgarno sequence in Escherichia coli.
It is defined by the following sequence: (gcc)gccRccAUGG,in which R is either adenine (A) or guanine (G). Among other factors, ☆a purine (A or G) positioned 3 bases upstream from AUG appears to play a key role in this initiation process. geneticsUWorld HirotoShishido
mutation in the gene which encodes DNA helicasebloom syndrome
a rare autosomal recessive disorder caused by mutations in the BLM gene
This gene encodes DNA helicase, an enzyme responsible for unwinding of the double helix during DNA replication and repair. Helicase dysfunction results in chromosomal instability and breakage and manifests clinically with growth retardation, facial anomalies (eg, ☆microcephaly), ☆photosensitive rash, and immunodeficiency (eg, recurrent infections). geneticsUWorld HirotoShishido
p-value for genome-wide association studies(GWAS)this aims to identify association between hundreds of thousands of genetic variants and a disease
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
homeobox gene mutationHomeobox genes(encode transcriptional factors) assist in development of the axial and appendicular skeleton, central nervous system, gut, and urogenital tract.
HOXA13 is a homeobox gene mutated in ☆hand-foot-genital syndrome, a rare, dominantly inherited condition characterized by malformations of the distal limbs, such as ☆hypoplastic first digits, and ☆Müllerian fusion abnormalities (eg, uterus didelphys), which can cause miscarriages. geneticsUWorld SIM1 HirotoShishido
what initiate translation/ alternative way during apoptosisEukaryotic initiation factors☆ (eIFs) identify the 5′ cap.
caspase degrade elFs→ ☆internal ribosome entry
With this method, a distinct nucleotide sequence called the internal ribosome entry site (IRES) attracts the eukaryotic ribosome to mRNA and allows translation to begin in the middle of the mRNA sequence geneticsbiologyUWorld SIM1 HirotoShishido
abnormalities in chromosome 13,15,16,1713: find a Penny, Real Bad luck→ Wilson disease, Retinoblastoma 1, BRCA2
PAM /Ate 1 Apple and 2 Tomatos/Before 1 Pm Nap
15: Prader-willi, Angelman, Marfan
16: α-globin, ADPKD(PKD1), TSC2
17: BRCA1, p53, NF1 genetics HirotoShishido
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
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
carrier frequency2pq(aA or Aa)= 2q(p≒1)
q=mutant allele frequency
q^2=the frequency of affected individuals geneticsUWorld HirotoShishido
cystic fibrosis
changes in channels on sweat duct, and airwaysweat duct: closed Cl- channel that absorbs Cl→ closed Na+ channel that absorbs Na
RNA polymeraseⅠ→ rRNA(present only in ☆nucleolus)
Ⅱ→ mRNA, miRNA, snRNA
※snRNA+specific protein(eg Smith protein)= small nuclear ribonucleoproteins(snRNP)
→☆RNA splicing
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
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
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
