Myriad Genetics, Inc.

Myraid Genetics, Inc.

Paul L Bartel

Sean V Tavtigian

Kimberly Mauck

Alexander K C Wong

David H Teng

David H-f Teng

Alexander K Wong

Karen A Heichman

Jean-Marc Roch

Max Dufford

Novel PN7718 protein and nucleic acids encoding PN7718 are provided. PN7718-containing protein complexes formed by PN7718 and a PN7718-interacting protein (e.g., cyclophilin C) are also provided. Cyclophilin C and PN7718 may be involved in common biological processes such as intracellular calcium signaling, beta-amyloid formation, T-cell receptor and IgE receptor signaling pathways, and protein folding and degradation. Thus, the protein complexes as well as PN7718 can be used in screening assays to select modulators of PN7718 and the protein complexes formed by PN7718 and cyclophilin C. The identified modulators can be useful in modulating the functions and activities of PN7718 and protein complexes containing PN7718, and in treating and preventing autoimmune diseases, neurological diseases and cardiovascular disorders.

PN7718 nucleic acids and use thereof

Protein complexes are provided comprising MAP17 and SCAMP2. The protein complexes are useful in screening assays for identifying compounds effective in modulating the protein complexes and in treating and/or preventing diseases and disorders associated with MAP17 and SCAMP2. In addition, methods for detecting the protein complexes and modulating the functions and activities of the protein complexes or interacting members thereof are also provided.

Membrane-associated protein 17KD (MAP17)-interacting protein and use thereof

The present invention relates to the discovery of protein&mdash;protein interactions that are involved in the pathogenesis of neurodegenerative disorders, including Alzheimer's disease (AD). Thus, the present invention is directed to complexes of these proteins and/or their fragments, antibodies to the complexes, diagnosis of neurodegenerative disorders (including diagnosis of a predisposition to and diagnosis of the existence of the disorder), drug screening for agents which modulate the interaction of proteins described herein, and identification of additional proteins in the pathway common to the proteins described herein.

Nucleic acid encoding a phosphatase 2C that interacts with Fe 65

The present invention is directed to the MMSC1 gene, its protein product and the use of the protein to (i) detect mutant MMAC1 proteins, (ii) screen for drugs which can be used for suppressing tumor growth and (iii) identify proteins which interact with the MMAC1 gene or are involved in the tumor suppression pathway of the MMAC1 gene.

MMSC1-an MMAC1 interacting protein

The present invention is directed to the MMSC2 gene, its protein product and the use of the protein to (i) detect mutant MMAC1 proteins, (ii) screen for drugs which can be used for suppressing tumor growth and (iii) identify proteins which interact with the MMAC1 gene or are involved in the tumor suppression pathway of the MMAC1 gene.

MMSC2&mdash;an MMAC1 interacting protein

Recent evidence indicates that the carboxy-terminal region of the tumor suppressor protein BRCA1 is a functionally significant domain. Using the yeast two-hybrid assay and an in vitro biochemical assay, it is here shown that a protein, B112, interacts specifically with the carboxy-terminal segment of human BRCA1 from residue 1602 to 1863. A germ line truncation mutation, 1853ter, that removes the last 11 amino acids from the carboxy-terminus of BRCA1 abolishes not only the transcription activation function, but also binding to B112. The B112 protein is apparently the same as an uncharacterized protein known as CtIP, the sequence of which was previously deposited in GenBank. Screenings of a panel of 92 tumor cell lines for mutations in the B112/CtIP sequence have identified a number of missense variants, including a non-conserved lysine to glutamic acid change at codon 337 in the pancreatic cancer line, BxPC3. Taken together, these results indicate that B112/CtIP participates in a common biochemical pathway as BRCA1 and that the interaction of these two proteins may be required for the tumor suppressor function of BRCA1.

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Salt Lake City, UT, United States of America

Paul L Bartel