Association of TSPYL polymorphisms with SIDDT syndrome

Details Association of TSPYL polymorphisms with SIDDT syndrome Association of TSPYL polymorphisms with SIDDT syndrome

2004-12-08

2009-12-15

Chunduru, Suryaprabha (Department: 1637)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C536S024310, C536S024330

Reexamination Certificate

active

07632640

ABSTRACT:
The identification of a novel mutation in the testis specific Y-like gene and association of the mutation with SIDDT syndrome are disclosed. Methods for diagnosing SIDDT syndrome are disclosed. Methods for identifying compounds for use in the diagnosis and treatment of disorders associated with mutation in the TSPYL gene are also disclosed. The invention therefore provides nucleic acid sequences, genes, polypeptides, antibodies, vectors containing the gene, host cells transformed with vectors containing the gene, animal models for the disease, methods for expressing the polypeptide, genetic screening methods and kits, diagnostic methods and kits.

REFERENCES:
patent: 6642001 (2003-11-01), Bolk et al.
patent: WO 01/12659 (2001-02-01), None
patent: WO 0112659 (2001-02-01), None
Schnieders, F et al. Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues. Human Molecular Genetics, vol. 5, No. 11, pp. 1801-1807, 1996.
Database EMBL ‘Online’; Jun. 22, 2001; “Sequence 433 from patent WO0140521.” XP002326410 retrieved from EBI accesion No. EM—PAT: AX157105 Database accesion No. AX157105; comprises 19 contiguous nucleotides of seq. ID No. 3 including G insertion at 457-458 & WO 01/40521 A (Curagen Corporation Shimkets, Richard, A.; Leach, Martin) Jun. 7, 2001.
Database EMBL ‘Online’; Mar. 20, 1996; “yz95a03.s1 Soares melanocyte 2NbHMHomo sapienscDNA clone Image:290764 3′ similar to gbimg id="CUSTOM-CHARACTER-00001" he="3.13mm" wi="2.79mm" file="US07632640-20091215-P00001.TIF" alt="custom character" img-content="character" img-format="tif" ?M87923img id="CUSTOM-CHARACTER-00002" he="3.13mm" wi="2.79mm" file="US07632640-20091215-P00001.TIF" alt="custom character" img-content="character" img-format="tif" ?HUMALCE12 Human carcinoma cell-derived Alu RNA transcript, (rRNA); gb:M57627 Interleukin-10 Precursor (Human); mRNA sequence.” XP002326411 retrieved from EBI accesion No. EM-EST:N71938. Database accesion No. N71938 comprises 19 contiguous nucleotides of Seq. ID No. 3 including G insertion at 457-458.
Database EMBL ‘Online’; Oct. 28, 1997; “nq47g07.s1NCI—CGAP—Co10Homo sapienscDNA clone Image:1147068 3′ similar to gb:L07077 Enoyl-CoA Hydratase (Human); mRNA sequence.”; XP002326413 retrieved from EBI accesion No. EM—EST:AA627434. Database accesion No. AA627434 comprises 19 contiguous nucleotides of Seq. ID No. 3 including G insertion at 457-458.
Database EMBL ‘Online’; Jun. 22, 2001; “Sequence 1716 from Patent WO140521.” XP002326414 retrieved from EBI accesion No. EM—PAT: AX158388 comprises Database accesion No. AX158388 comprises 19 contiguous nucleotides of Seq. ID No. 3 including G insertion at 457-458 & WO 01/40521 A (CUragen Corporation Shimkets, Richard A; Leach, Martin) Jun. 7, 2001.
Database EMBL ′Online! Jun. 22, 2001; “Sequence 2540 from Patent WO0140521”; XP002326414 retrieved from EBI accesion No. EM—PAT:AX159212 Database accesion No. AX159212 comprises 19 contiguous nucleotides of Seq. ID No. 3 including G insertion at 457-458 & WO 01/40521 A (Curagen Corporation; Shimkets, Richard, A; Leach, Martin).
Database DBSNP ′Online! NCBI; Jan. 8, 2002; XP002326647 retrieved from NCBI accesion No. REF SNP ID: RS3749894 Database accesion No. RS3749894 HTTP://www.NCI.NLM.NIH.GOV/SNP/SNP—REF.CGI?RS=3749894 abstract.
Database EMBL ′Online! Mar. 20, 2003, “Homo sapiensTSPY-like 1, mRNA (cDNA clone MGC:57205 Image: 5297724), complete cds.” XP002326412 retrieved from EBI accesion No. EM—HUM:BC048969 Database accesion No. BC048969 abstract.
Vogel et al; “Murine and human TSPY-SEt-nap1L1 family” Cytogenetics and Cell Genetics, Basel, Ch, vol. 81, No. 3-4, 1998, pp. 265-270, XP002952970.
Opdal Siri H. et al, “possible role of mtDNA mutations in sudden infant death”, Pediatric Neurology, Jul. 2002, vol. 27, No. 1, Jul. 2002, pp. 23-29, XP002326646.
Puffenberger Erik G, et al., “Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function”, Proceedings of the National Academy of Sciences of the United States of America; Aug. 10, 2004, vol. 101, No. 32., pp. 11689-11694.

Affiliated with

Also associated with

Rating

Association of TSPYL polymorphisms with SIDDT syndrome does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Association of TSPYL polymorphisms with SIDDT syndrome, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Association of TSPYL polymorphisms with SIDDT syndrome will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFUS-PAI-O-4107761