Patent
Genes for Niemann-Pick type C disease
| العنوان: | Genes for Niemann-Pick type C disease |
|---|---|
| Patent Number: | 7,045,675 |
| تاريخ النشر: | May 16, 2006 |
| Appl. No: | 10/208731 |
| Application Filed: | July 29, 2002 |
| مستخلص: | A gene for type C Niemann-Pick disease (NP-C) is disclosed, along with the amino acid sequence of the encoded peptide. Applications which are made possible by the present invention include detection of NP-C carriers and diagnosis of NP-C sufferers. The murine ortholog of the human gene is also disclosed. |
| Inventors: | Carstea, Eugene D (Woburn, MA, US); Tagle, Danilo A. (Gaithersburg, MD, US); Morris, Jill A. (Chalfont, PA, US); Pentchev, Peter G. (Kensington, MD, US); Pavan, William J. (Derwood, MD, US); Ashlock, Melissa A. (Mont Vernon, NH, US); Loftus, Stacie K. (Burtonsville, MD, US); Gu, Jessie (Cambridge, MA, US) |
| Assignees: | The United States of America as represented by the Department of Health and Human Services (Washington, DC, US) |
| Claim: | 1. A transgenic cell produced by introducing into the cell a vector comprising a recombinant nucleic acid that encodes a protein comprising an amino acid sequence selected from the group consisting of: (a) the amino acid sequence shown in SEQ ID NO: 2; (b) the amino acid sequence shown in SEQ ID NO: 4; and (c) amino acid sequences having at least 95% sequence identity to the sequences specified in (a) or (b), wherein the protein has NPC1 protein biological activity. |
| Claim: | 2. The transgenic cell of claim 1 , wherein the recombinant nucleic acid molecule encodes a protein having the amino acid sequence shown in SEQ ID NO: 2. |
| Claim: | 3. The transgenic cell of claim 1 , wherein the recombinant nucleic acid molecule encodes a protein having the amino acid sequence shown in SEQ ID NO: 4. |
| Claim: | 4. The transgenic cell of claim 1 , wherein the recombinant nucleic acid molecule comprises a nucleotide sequence selected from the group consisting of: (a) the nucleotide sequence shown in SEQ ID NO: 1; (b) the nucleotide sequence shown in SEQ ID NO: 3; and (c) sequences which hybridize under conditions of very high stringency to a nucleotide sequence in (a) or (b), wherein the nucleic acid molecule encodes a protein that has NPC1 protein biological activity. |
| Claim: | 5. The transgenic cell of claim 1 , wherein the recombinant nucleic acid molecule comprises the nucleotide sequence shown in SEQ ID NO: 1. |
| Claim: | 6. The transgenic cell of claim 1 , wherein the recombinant nucleic acid molecule comprises the nucleotide sequence shown in SEQ ID NO: 3. |
| Claim: | 7. A transgenic cell expressing a recombinant protein having NPC1 protein biological activity, wherein the transgenic cell comprises a recombinant nucleic acid molecule that hybridizes under conditions of very high stringency to a nucleic acid molecule having a nucleotide sequence selected from the group consisting of: (a) SEQ ID NO: 1; and (b) SEQ ID NO: 3. |
| Claim: | 8. The transgenic cell of claim 7 , wherein the recombinant protein having NPC-1 protein biological activity comprises a sequence that shares at least 95% sequence identity to the sequence shown in SEQ ID NO: 2 or SEQ ID NO: 4. |
| Claim: | 9. A cell containing a recombinant vector comprising a nucleic acid molecule comprising a sequence selected from the group consisting of the sequences shown in: (a) SEQ ID NO: 1 or its complementary strand; (b) SEQ ID NO: 3 or its complementary strand; and (c) sequences which hybridize under conditions of very high stringency to a sequence in (a) or (b). |
| Claim: | 10. The cell according to claim 9 , wherein the nucleic acid molecule encodes a protein having at least 95% amino acid sequence identity to a sequence selected from the group consisting of: (a) SEQ ID NO: 2; and (b) SEQ ID NO: 4, and which protein has NPC1 protein biological activity. |
| Current U.S. Class: | 800/8 |
| Patent References Cited: | 4039388 August 1977 Gal et al. 5859328 January 1999 Nasrallah et al. 6426198 July 2002 Carstea et al. 0 520 843 April 1992 |
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| Assistant Examiner: | Brannock, Michael |
| Primary Examiner: | Kemmerer, Elizabeth |
| Attorney, Agent or Firm: | Klarquist Sparkman LLP |
| رقم الانضمام: | edspgr.07045675 |
| قاعدة البيانات: | USPTO Patent Grants |
| الوصف غير متاح. |