Claims
- 1. An isolated protein having the amino acid sequence of SEQ ID NO: 78.
- 2. An isolated gene product encoded by a nucleic acid containing at least one mutation that results in expression of said gene product in a Bloom's syndrome patient, said nucleic acid corresponding to a mutated form of nucleic acid encoding the amino acid sequence contained in SEQ ID NO: 78, wherein said mutation is characterized by: (i) a deletion of nucleotides 631-633 of SEQ ID NO: 72; (ii) a substitution of A with T at nucleotide 888 of SEQ ID NO: 72; (iii) an insertion of A after nucleotide 1610 of SEQ ID NO: 72; (iv) a substitution of A with G at nucleotide 2089 of SEQ ID NO: 72; (v) a replacement of nucleotides ATCTGA at position 2281-2286 of SEQ ID NO: 72 with nucleotides TAGATTC; (vi) a substitution of T with C at nucleotide 2596 of SEQ ID NO: 72; or (vii) a substitution of G with C at nucleotide 3238 of SEQ ID NO: 72.
- 3. The gene product of claim 2, wherein said mutation is characterized by a deletion of nucleotides 631-633 of SEQ ID NO: 72.
- 4. The gene product of claim 2, wherein said mutation is characterized by a substitution of A with T at nucleotide 888 of SEQ ID NO: 72.
- 5. The gene product of claim 2, wherein said mutation is characterized by an insertion of A after nucleotide 1610 of SEQ ID NO: 72.
- 6. The gene product of claim 2, wherein said mutation is characterized by a substitution of A with G at nucleotide 2089 of SEQ ID NO: 72.
- 7. The gene product of claim 2, wherein said mutation is characterized by a replacement of nucleotides ATCTGA at position 2281-2286 of SEQ ID NO: 72 with nucleotides TAGATTC.
- 8. The gene product of claim 2, wherein said mutation is characterized by a substitution of T with C at nucleotide 2596 of SEQ ID NO: 72.
- 9. The gene product of claim 2, wherein said mutation is characterized by a substitution of G with C at nucleotide 3238 of SEQ ID NO: 72.
CROSS-REFERENCE TO RELATED APPLICATIONS
This is a continuation of U.S. application Ser. No. 08/559,303, filed Nov. 15, 1995, now U.S. Pat. No. 5,824,501, the contents of which is hereby incorporated by reference in its entirety.
STATEMENT OF GOVERNMENT INTEREST
This invention was made with government support under NIH Grant Nos. HD 04134, CA 50897 and GM 47890. As such, the government has certain rights in this invention.
Non-Patent Literature Citations (3)
Entry |
Puranam et al. Cloning and characterization of RECQL, a potential human homologue of the Escherichia coli DNA helicase RecQ. J. Biol. Chem. (1994) 269(47):29838-45, Nov. 1994.* |
Gangloff et al. The yeast type I topoisomerase Top3 interacts with Sgs1, a DNA helicase homolog: a potential eukaryotic reverse gyrase, Mol. Cell Biol. (Dec. 1994) 14(12):8391-8.* |
Umezu et al. Escherichia coli RecQ protein is a DNA helicase. PNAS (Jul. 1990) 87(14):5363-7. |
Continuations (1)
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Number |
Date |
Country |
Parent |
08/559303 |
Nov 1995 |
US |
Child |
09/175828 |
|
US |