Abstract
Complex genetic disorders have begun to yield to sequential positional cloning initiatives. Both in humans and in mice, given that multiple susceptibility loci can be established, it is generally possible to dissect phenotypes one gene at a time. The first step has been taken in Crohn's disease. But even simple genetic disorders pose problems of interpretation once they are solved by positional methods. How does huntingtin create its phenotype? How do mutations of superoxide dismutase create amyotrophic lateral sclerosis? How do mutations of NRAMP enhance susceptibility to mycobacterial infection? When numerous mutations are responsible for a phenotype, the riddle is more challenging still. NOD2 has become the eighth protein known to have strong ties to cell death pathways and to autoimmunity. Mutations of NOD2 are responsible for a discrete autoimmune disease. But as to how they create the phenotype, much remains to be learned.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 5-14 |
| Number of pages | 10 |
| Journal | Immunity |
| Volume | 15 |
| Issue number | 1 |
| DOIs | |
| State | Published - 2001 |
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ASJC Scopus subject areas
- Immunology and Allergy
- Infectious Diseases
- Immunology
Cite this
Autoimmunity and apoptosis : The Crohn's connection. / Beutler, Bruce.
In: Immunity, Vol. 15, No. 1, 2001, p. 5-14.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Autoimmunity and apoptosis
T2 - The Crohn's connection
AU - Beutler, Bruce
PY - 2001
Y1 - 2001
N2 - Complex genetic disorders have begun to yield to sequential positional cloning initiatives. Both in humans and in mice, given that multiple susceptibility loci can be established, it is generally possible to dissect phenotypes one gene at a time. The first step has been taken in Crohn's disease. But even simple genetic disorders pose problems of interpretation once they are solved by positional methods. How does huntingtin create its phenotype? How do mutations of superoxide dismutase create amyotrophic lateral sclerosis? How do mutations of NRAMP enhance susceptibility to mycobacterial infection? When numerous mutations are responsible for a phenotype, the riddle is more challenging still. NOD2 has become the eighth protein known to have strong ties to cell death pathways and to autoimmunity. Mutations of NOD2 are responsible for a discrete autoimmune disease. But as to how they create the phenotype, much remains to be learned.
AB - Complex genetic disorders have begun to yield to sequential positional cloning initiatives. Both in humans and in mice, given that multiple susceptibility loci can be established, it is generally possible to dissect phenotypes one gene at a time. The first step has been taken in Crohn's disease. But even simple genetic disorders pose problems of interpretation once they are solved by positional methods. How does huntingtin create its phenotype? How do mutations of superoxide dismutase create amyotrophic lateral sclerosis? How do mutations of NRAMP enhance susceptibility to mycobacterial infection? When numerous mutations are responsible for a phenotype, the riddle is more challenging still. NOD2 has become the eighth protein known to have strong ties to cell death pathways and to autoimmunity. Mutations of NOD2 are responsible for a discrete autoimmune disease. But as to how they create the phenotype, much remains to be learned.
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UR - http://www.scopus.com/inward/citedby.url?scp=0034906019&partnerID=8YFLogxK
U2 - 10.1016/S1074-7613(01)00176-5
DO - 10.1016/S1074-7613(01)00176-5
M3 - Article
C2 - 11485733
AN - SCOPUS:0034906019
VL - 15
SP - 5
EP - 14
JO - Immunity
JF - Immunity
SN - 1074-7613
IS - 1
ER -