The Discovery of Introns The Nobel Prize in Physiology or Medicine 1993 "for their discoveries of split genes" Presented by 李柏毅 Institute of Bioinformatics,

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!