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The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and
R A Spritz1, K Strunk, C S Surowy
1Department of Medical Genetics, University of Wisconsin, Madison 53706.
Nucleic Acids Research
|December 23, 1987
Summary
Researchers identified the human U1-70K snRNP protein gene (U1AP1) on chromosome 19. Alternative splicing suggests multiple protein forms may exist, potentially with distinct functions.
Area of Science:
- Molecular Biology
- Genetics
- Human Genetics
Background:
- The U1-70K protein is a component of the U1 small nuclear ribonucleoprotein (snRNP) complex, essential for pre-mRNA splicing.
- Understanding the genetic basis and protein variants of U1-70K is crucial for comprehending spliceosome function and associated diseases.
Purpose of the Study:
- To isolate and sequence cDNA clones encoding the human U1-70K snRNP protein.
- To map the U1AP1 gene locus to a specific human chromosome.
- To investigate the potential for alternative splicing and protein isoforms.
Main Methods:
- cDNA cloning and sequencing
- Gene mapping techniques (e.g., in situ hybridization or radiation hybrid mapping)
- RNA analysis (Northern blotting or RT-PCR)
- In vitro RNA binding assays
Main Results:
- Isolated and sequenced cDNA clones for human U1-70K snRNP protein.
- Mapped the U1AP1 gene locus to human chromosome 19.
- Identified two RNA size classes (1.7-kb mRNA and a 3.9-kb RNA).
- Determined the likely actual protein size is 52 kd, not 70 kd.
- Found the protein possesses nucleic acid-binding domains and binds RNA in vitro.
- Evidence of alternative pre-mRNA splicing involving at least four alternative exons.
Conclusions:
- The human U1-70K snRNP protein gene (U1AP1) is located on chromosome 19.
- Alternative splicing of U1-70K pre-mRNA can generate multiple mRNA subclasses.
- This alternative splicing suggests the potential existence of multiple hU1-70K protein isoforms with potentially different in vivo functions.