Gideon Dreyfuss
Encyclopedia
Dr. Gideon Dreyfuss is the Isaac Norris Professor Biochemistry and Biophysics at the University of Pennsylvania School of Medicine
and a investigator of the Howard Hughes Medical Institute
.
He received his Ph.D. in biological chemistry in 1978 from Harvard University
. Dr. Dreyfuss is a fellow of the American Academy of Arts and Sciences
.
The Dreyfuss Lab is interested in various projects studying the function and biogenesis of non-coding RNA
and the proteins that interact with RNA. A primary research goal of the lab is to elucidate the function of Survival of Motor Neuron
protein, SMN
, which assembles a heptameric ring of Sm proteins on U snRNA's to form snRNP
's that are essential components of the splicesome. Moreover, loss of functional SMN is directly linked to Spinal Muscular Atrophy
, a debilitating neurodegenerative disease that is characterize by the eventual death of motor neurons and muscular wasting. The Dreyfuss Lab is conducting research to understand the role of SMN in SMA pathology and using high throughput screening to discover potential therapeutics. The lab also studies the dynamic mechanism of RNA splicing
, the RNA-binding protein
s that determine exonic specificity, and snRNA's that are important regulators of splicing and mRNA maturation.
University of Pennsylvania School of Medicine
The Perelman School of Medicine , formerly the University of Pennsylvania School of Medicine, was founded in 1765, making it the oldest American medical school. As part of the University of Pennsylvania, it is located in the University City section of Philadelphia, Pennsylvania. It is widely...
and a investigator of the Howard Hughes Medical Institute
Howard Hughes Medical Institute
Howard Hughes Medical Institute is a United States non-profit medical research organization based in Chevy Chase, Maryland. It was founded by the American businessman Howard Hughes in 1953. It is one of the largest private funding organizations for biological and medical research in the United...
.
He received his Ph.D. in biological chemistry in 1978 from Harvard University
Harvard University
Harvard University is a private Ivy League university located in Cambridge, Massachusetts, United States, established in 1636 by the Massachusetts legislature. Harvard is the oldest institution of higher learning in the United States and the first corporation chartered in the country...
. Dr. Dreyfuss is a fellow of the American Academy of Arts and Sciences
American Academy of Arts and Sciences
The American Academy of Arts and Sciences is an independent policy research center that conducts multidisciplinary studies of complex and emerging problems. The Academy’s elected members are leaders in the academic disciplines, the arts, business, and public affairs.James Bowdoin, John Adams, and...
.
The Dreyfuss Lab is interested in various projects studying the function and biogenesis of non-coding RNA
RNA
Ribonucleic acid , or RNA, is one of the three major macromolecules that are essential for all known forms of life....
and the proteins that interact with RNA. A primary research goal of the lab is to elucidate the function of Survival of Motor Neuron
Survival of motor neuron
The Survival of Motor Neuron is a protein involved in the assembly of snRNPs, the essential components of spliceosomal machinery. A lack of SMN due to SMN1 deletion results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy.SMN also...
protein, SMN
Survival of motor neuron
The Survival of Motor Neuron is a protein involved in the assembly of snRNPs, the essential components of spliceosomal machinery. A lack of SMN due to SMN1 deletion results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy.SMN also...
, which assembles a heptameric ring of Sm proteins on U snRNA's to form snRNP
SnRNP
snRNPs , or small nuclear ribonucleoproteins, are RNA-protein complexes that combine with unmodified pre-mRNA and various other proteins to form a spliceosome, a large RNA-protein molecular complex upon which splicing of pre-mRNA occurs...
's that are essential components of the splicesome. Moreover, loss of functional SMN is directly linked to Spinal Muscular Atrophy
Spinal muscular atrophy
Spinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness...
, a debilitating neurodegenerative disease that is characterize by the eventual death of motor neurons and muscular wasting. The Dreyfuss Lab is conducting research to understand the role of SMN in SMA pathology and using high throughput screening to discover potential therapeutics. The lab also studies the dynamic mechanism of RNA splicing
RNA splicing
In molecular biology and genetics, splicing is a modification of an RNA after transcription, in which introns are removed and exons are joined. This is needed for the typical eukaryotic messenger RNA before it can be used to produce a correct protein through translation...
, the RNA-binding protein
RNA-binding protein
RNA-binding proteins are proteins that bind to RNA. They bind to either double-strand or single-strand RNAs through RNA recognition motif . RNA-binding proteins may regulate the translation of RNA, and post-transcriptional events, such as RNA splicing, editing.They are cytoplasmic and nuclear...
s that determine exonic specificity, and snRNA's that are important regulators of splicing and mRNA maturation.
Genes or Gene Functions Discovered
- eIF4A3EIF4A3Eukaryotic initiation factor 4A-III is a protein that in humans is encoded by the EIF4A3 gene.-Further reading:...
- FXR1FXR1Fragile X mental retardation syndrome-related protein 1 is a protein that in humans is encoded by the FXR1 gene.-Interactions:FXR1 has been shown to interact with FXR2 and FMR1.-Further reading:...
- FXR2FXR2Fragile X mental retardation syndrome-related protein 2 is a protein that in humans is encoded by the FXR2 gene.-Interactions:FXR2 has been shown to interact with FXR1, LCMT1, FMR1 and CYFIP1.-Further reading:...
- GEMIN2 or SIP1Survival of motor neuron protein-interacting protein 1Survival of motor neuron protein-interacting protein 1 is a protein that in humans is encoded by the SIP1 gene.-Interactions:Survival of motor neuron protein-interacting protein 1 has been shown to interact with DDX20 and SMN1.-Further reading:...
- GEMIN3DDX20Probable ATP-dependent RNA helicase DDX20 is an enzyme that in humans is encoded by the DDX20 gene.-Interactions:DDX20 has been shown to interact with LSM2, Small nuclear ribonucleoprotein polypeptide F, SNRPG, GEMIN4, Survival of motor neuron protein-interacting protein 1, SMN1, Small nuclear...
- GEMIN4GEMIN4Component of gems 4 is a protein that in humans is encoded by the GEMIN4 gene.-Interactions:GEMIN4 has been shown to interact with DDX20, EIF2C2, LGALS1 and SMN1.-Further reading:...
- GEMIN5GEMIN5Gem-associated protein 5 is a protein that in humans is encoded by the GEMIN5 gene.-Interactions:GEMIN5 has been shown to interact with DDX20 and SMN1.-Further reading:...
- GEMIN6
- GEMIN7
- GEMIN8GEMIN8Gem-associated protein 8 is a protein that in humans is encoded by the GEMIN8 gene.- Function :Gemin-8 is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. Gemin-8 binds to both SMN1 and the GEMIN6 / GEMIN7...
- HNRNPA2/B1RA33RA33, also known as heterogeneous nuclear ribonucleoprotein A2/B1 is an autoantigen in human autoimmune diseases.In 1989, a novel class of autoantibodies were detected in sera of patients with rheumatoid arthritis which were directed to a protein with an estimated molecular mass of approximately...
- HNRNPCHNRNPCHeterogeneous nuclear ribonucleoproteins C1/C2 is a protein that in humans is encoded by the HNRNPC gene.It is abnormally expressed in fetuses of both IVF and ICSI, which may contribute to the increase risk of birth defects in these ART.-Function:...
- HNRNPLHNRNPLHeterogeneous nuclear ribonucleoprotein L is a protein that in humans is encoded by the HNRNPL gene.-Interactions:HNRNPL has been shown to interact with PCBP2, HNRPK and PTBP1.-Further reading:...
- HNRNPRHNRNPRHeterogeneous nuclear ribonucleoprotein R is a protein that in humans is encoded by the HNRNPR gene.-Interactions:HNRNPR has been shown to interact with SMN1 and PRMT1.-Further reading:...
- HNRNPUHNRPUHeterogeneous nuclear ribonucleoprotein U is a protein that in humans is encoded by the HNRNPU gene.-Interactions:HNRPU has been shown to interact with NDN, EP300, Glucocorticoid receptor and GTF2F1.-Further reading:...
- Y14
See also
- Survival of motor neuronSurvival of motor neuronThe Survival of Motor Neuron is a protein involved in the assembly of snRNPs, the essential components of spliceosomal machinery. A lack of SMN due to SMN1 deletion results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy.SMN also...
- SMN1SMN1Survival motor neuron protein is a protein that in humans is encoded by the SMN1 gene.-Interactions:SMN1 has been shown to interact with Gem-associated protein 7, GEMIN4, KPNB1, Survival of motor neuron protein-interacting protein 1, DDX20, Coilin, Small nuclear ribonucleoprotein D1, Fibrillarin,...
- SMN2SMN2Survival of motor neuron 2, centromeric also known as SMN2 is a protein which in humans is encoded by the SMN2 gene.- Gene :This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to...
- Spinal muscular atrophySpinal muscular atrophySpinal Muscular Atrophy is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscular atrophy and weakness. The clinical spectrum of SMA ranges from early infant death to normal adult life with only mild weakness...
- Heterogeneous ribonucleoprotein particleHeterogeneous ribonucleoprotein particleHeterogeneous nuclear ribonucleoproteins are complexes of RNA and protein present in the cell nucleus during gene transcription and subsequent post-transcriptional modification of the newly synthesized RNA . The presence of the proteins bound to a pre-mRNA molecule serves as a signal that the...