The Discovery of Introns The Nobel Prize in Physiology or Medicine 1993 "for their discoveries of...
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The Discovery of I The Discovery of I ntrons ntrons The Nobel Prize in Physiology or Medicine The Nobel Prize in Physiology or Medicine 1993 1993 "for their discoveries of split genes" "for their discoveries of split genes" Presented by 李李李 Institute of Bioinformatics, National Yang-Ming University
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Transcript of The Discovery of Introns The Nobel Prize in Physiology or Medicine 1993 "for their discoveries of...
The Discovery of IntronsThe Discovery of IntronsThe Nobel Prize in Physiology or Medicine 1993 The Nobel Prize in Physiology or Medicine 1993
"for their discoveries of split genes""for their discoveries of split genes"
Presented by 李柏毅Institute of Bioinformatics,
National Yang-Ming University
BackgroundBackground
周芷 , Roberts and Sharp discovered that genes could be discontinuous in 1977
Richard J. Roberts Phillip A. Sharp New England Biolabs Beverly, MA, USA
Massachusetts Institute of Technology (MIT), Center for Cancer Research Cambridge, MA, USA
BackgroundBackground
During the first decades, studies on simple organisms, in particular bacteria and bacterial viruses.
Aim of StudyAim of Study
To determine where in the genome different genes were located in adenovirus.
This virus infects the cells of higher organisms, and its genome has many properties resembling those of the host cell.
The Experiment (cont.)The Experiment (cont.)
…….ACCTGGCCC………….TGGAGCGGG………….TGGAGCGGG……
transcription
The two strands of DNAare separated
DNA of adenovirus
hybrid
…….ACCTGGCCC……
…….TGGAGCGGG……
+
…….TGGAGCGGG……mRNA
The Experiment (cont.)The Experiment (cont.)
In EukaryotesIn Eukaryotes
In EukaryotesIn Eukaryotes
Alternative promoter selection Alternative tail site selection Alternative splicing by exon cassette s
election Trans-Splicing
Alternative SplicingAlternative Splicing
EXON1 Intron1 EXON2 Intrin2 EXON3P1 P2 T1 T2
EXON1 Intron1 EXON2 Intrin2 EXON3
EXON1 Intron1 EXON2 Intrin2 EXON3
DiscussionDiscussion
The most studied of such diseases is beta-thalassemia.
The protein, beta-globin, forms part of hemoglobin.
The life-span of the red blood cells is shortened resulting in anemia.
DiscussionDiscussion
If the globin gene is damaged:
References
Nobel e-Museumhttp://www.nobel.se/medicine/laureates/1993/index.htmlhttp://www.nobel.se/medicine/educational/dna/b/splicing/
http://www.sinica.edu.tw/as/weekly/83/478/person.txt http://www.blc.arizona.edu/marty/411/Modules/splicemec
h.html http://fig.cox.miami.edu/~cmallery/150/gene/split_genes.h
tm David P. Clark, Lonnie D. Russell. Molecular Biology – m
ade simple and fun / 2e. 2000 (p.142-149) Benjamin Lewin. GENES VI. 1998 (p.887-892)
THANKS!
