RecQ helicase
| Bloom syndrome | |
|---|---|
| Identifiers | |
| Symbol | BLM |
| Entrez | 641 |
| HUGO | 1058 |
| OMIM | 604610 |
| RefSeq | NM_000057 |
| UniProt | P54132 |
| Other data | |
| Locus | Chr. 15 [1] |
| RecQ protein-like 4 | |
|---|---|
| Identifiers | |
| Symbol | RECQL4 |
| Entrez | 9401 |
| HUGO | 9949 |
| OMIM | 603780 |
| RefSeq | NM_004260 |
| UniProt | O94761 |
| Other data | |
| Locus | Chr. 8 q24.3 |
| RecQ protein-like 5 | |
|---|---|
| Identifiers | |
| Symbol | RECQL5 |
| Entrez | 9400 |
| HUGO | 9950 |
| OMIM | 603781 |
| RefSeq | NM_004259 |
| UniProt | O94762 |
| Other data | |
| Locus | Chr. 17 q25 |
| RMI1, RecQ mediated genome instability 1 | |
|---|---|
| Identifiers | |
| Symbol | RMI1 |
| Alt. symbols | C9orf76 |
| Entrez | 80010 |
| HUGO | 25764 |
| OMIM | 610404 |
| RefSeq | NM_024945 |
| UniProt | Q9H9A7 |
| Other data | |
| Locus | Chr. 9 q22.1 |
| Werner syndrome | |
|---|---|
| Identifiers | |
| Symbol | WRN |
| Entrez | 7486 |
| HUGO | 12791 |
| OMIM | 604611 |
| RefSeq | NM_000553 |
| UniProt | Q14191 |
| Other data | |
| Locus | Chr. 8 p |
RecQ helicase is a family of helicase enzymes initially found in Escherichia coli that has been shown to be important in genome maintenance. They function through catalyzing the reaction ATP + H2O → ADP + P and thus driving the unwinding of paired DNA and translocating in the 3' to 5' direction. These enzymes can also drive the reaction NTP + H2O → NDP + P to drive the unwinding of either DNA or RNA.
In prokaryotes RecQ is necessary for plasmid recombination and DNA repair from UV-light, free radicals, and alkylating agents. This protein can also reverse damage from replication errors. In eukaryotes, replication does not proceed normally in the absence of RecQ proteins, which also function in aging, silencing, recombination and DNA repair.
RecQ family members share three regions of conserved protein sequence referred to as the:
The removal of the N-terminal residues (Helicase and, RecQ-Ct domains) impairs both helicase and ATPase activity but has no effect on the binding ability of RecQ implying that the N-terminus functions as the catalytic end. Truncations of the C-terminus (HRDC domain) compromise the binding ability of RecQ but not the catalytic function. The importance of RecQ in cellular functions is exemplified by human diseases, which all lead to genomic instability and a predisposition to cancer.
There are at least five human RecQ genes; and mutations in three human RecQ genes are implicated in heritable human diseases: WRN gene in Werner syndrome (WS), BLM gene in Bloom syndrome (BS), and RECQ4 in Rothmund-Thomson syndrome. These syndromes are characterized by premature aging, and can give rise to the diseases of cancer, type 2 diabetes, osteoporosis, and atherosclerosis, which are commonly found in old age. These diseases are associated with high incidence of chromosomal abnormalities, including chromosome breaks, complex rearrangements, deletions and translocations, site specific mutations, and in particular sister chromatid exchanges (more common in BS) that are believed to be caused by a high level of somatic recombination.
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Wikipedia