Poster-Medicine-1993

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1901

2009

Prize category:

The Nobel Prize in Physiology or Medicine 1993

Richard J. Roberts, Phillip A. Sharp

The Nobel Prize in Physiology or Medicine 1993

Nobel Prize Award Ceremony

Award Ceremony Speech

Richard J. Roberts

Phillip A. Sharp

Splicing and diseases

Splicing errors cause thalassemia
	Thalassemia, a form of anemia common in the Mediterrarean countries, is caused by errors in the splicing process.

Normal red blood cells contain correctly spliced beta-globin, an important component in hemoglobin that takes up oxygen in the lungs.
	The red blood cells in thalassemia patients are distorted and sometimes immature, containing a nucleus. This is due to a point mutation in the beta-globin gene, which causes an error in splice site selection. A faulty beta-globin protein is made, leading to severe anemia.

Arrows mark two examples of sites where point mutations causing thalassemia occur in the beta-globin gene.
The Philadelphia chromosome and cancer
The small Philadelphia chromosome is present in cancer cells of almost all patients with chronic myeloic leukemia, a form of cancer of the blood. This chromosome is generated by breaks in the long arms of chromosomes 9 and 22 followed by an exchange of the tips of the chromosomes (translocation). This results in the creation of a fusion gene in the Ph chromosome, which then via a spliced mRNA, gives rise to a fusion protein. This abnormal protein is believed to play a key role in causing leukemia.

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