Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

6117

Name

RPA1

Synonymous

HSSB|MST075|REPA1|RF-A|RP-A|RPA70;replication protein A1, 70kDa;RPA1;replication protein A1, 70kDa

Definition

MSTP075|RF-A protein 1|RP-A p70|replication factor A protein 1|replication protein A 70 kDa DNA-binding subunit|single-stranded DNA-binding protein

Position

17p13.3

Gene type

protein-coding

Title

Abstract

Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in mice.

Most cancers have multiple chromosomal rearrangements; the molecular mechanisms that generate them remain largely unknown. Mice carrying a heterozygous missense change in one of the DNA-binding domains of Rpa1 develop lymphoid tumors, and their homozygous littermates succumb to early embryonic lethality. Array comparative genomic hybridization of the tumors identified large-scale chromosomal changes as well as segmental gains and losses. The Rpa1 mutation resulted in defects in DNA double-strand break repair and precipitated chromosomal breaks as well as aneuploidy in primary heterozygous mutant mouse embryonic fibroblasts. The equivalent mutation in yeast is hypomorphic and semidominant and enhanced the formation of gross chromosomal rearrangements in multiple genetic backgrounds. These results indicate that Rpa1 functions in DNA metabolism are essential for the maintenance of chromosomal stability and tumor suppression.

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