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, National Yang-Ming University

Background 周芷, Roberts and Sharp discovered that genes could be discontinuous in 1977 Richard J. RobertsPhillip A. Sharp New England Biolabs Beverly, MA, USA Massachusetts Institute of Technology (MIT), Center for Cancer Research Cambridge, MA, USA

Background During the first decades, studies on simple organisms, in particular bacteria and bacterial viruses.

Aim 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.) …….ACCTGGCCC…… …….TGGAGCGGG…… transcription The two strands of DNA are separated DNA of adenovirus hybrid …….ACCTGGCCC…… …….TGGAGCGGG…… + mRNA

The Experiment (cont.)

In Eukaryotes

Alternative promoter selection Alternative tail site selection Alternative splicing by exon cassette selection Trans-Splicing Alternative Splicing EXON1 Intron1 EXON2 Intrin2 EXON3 P1P2T1T2 EXON1 Intron1 EXON2 Intrin2 EXON3 EXON1 Intron1 EXON2 Intrin2 EXON3

Discussion 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.

Discussion If the globin gene is damaged:

References Nobel e-Museum h.html tm David P. Clark, Lonnie D. Russell. Molecular Biology – made simple and fun / 2e (p ) Benjamin Lewin. GENES VI (p )

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