Bio-rad Laboratories, Inc.

Mercator Genetics, Inc.

Exelixis, Inc.

Exelixis Pharmaceuticals, Inc.

David Andrew Ruddy

Roger K Wolff

John N Feder

Zenta Tsuchihashi

Winston J Thomas

Andreas Gnirke

Dennis T Drayna

Bindu Priya Reddy

Andrew Roy Buchman

Stephen Kohl Doberstein

Michael A Ellis

Helen Louise Francis-Lang

George Ross Francis

Bruce E Kimmel

Sheila Akiko Homburger

Allen James Ebens, Jr

Jonathan Scott Margolis

Garth Joseph McGrath

Catherine Sue Erickson

Linda Nolan Keyes

Daniel Tim Curtis

Peter M Lauer

Michael Christopher Ellis

Gregory Scott Kronmal

Sharmon Monique Nicoll

Gregory S Kronmal

Thomas Winston

The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also related to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.

Hereditary hemochromatosis gene

Determining genotype of a polymorphic site in the hereditary hemochromatosis gene

Polymorphic sites in the region surrounding the HH gene are provided. These polymorphisms are useful as surrogate markers in diagnostic assays for hemochromatosis.

Polymorphisms in the region of the human hemochromatosis gene

The invention provides methods and compositions relating to pen polypeptides having pen-specific structure and activity, related polynucleotides and modulators of pen function. The invention provides isolated pen hybridization probes and primers capable of specifically hybridizing with natural pen genes, pen-specific binding agents such as specific antibodies, and methods of making and using the subject compositions in diagnosis (e.g. genetic hybridization screens for pen transcripts), therapy (e.g. pen inhibitors to modulate APP processing) and in the biopharmaceutical industry (e.g. as immunogens, reagents for screening chemical libraries for lead pharmacological agents, etc.).

Presenilin enhancers assays

Plasmids comprising nucleic acids from the hereditary hemochromatosis gene

The present invention relates to Drosophila genes and methods for their use. The invention provides nucleotide sequences of Drosophila genes, amino acid sequences of the encoded proteins, and derivatives (e.g., fragments) and analogs thereof. The invention further relates to fragments (and derivatives and analogs thereof) of proteins which comprise one or more domains of a Drosophila protein. Antibodies to Drosophila proteins, and derivatives and analogs thereof, are also provided. Also provided herein are vectors and host cells comprising such nucleic acids. Methods of production of a Drosophila protein (e.g., by recombinant means), and derivatives and analogs thereof, are provided. Chimeric polypeptide molecules comprising polypeptides of the invention fused to heterologous polypeptide sequences are provided. Methods to identify the biological function of a Drosophila gene are provided, including various methods for the functional modification (e.g., overexpression, underexpression, mutation, knock-out) of one gene, or of two or more genes simultaneously. Methods to identify a Drosophila gene which modifies the function of, and/or functions in a downstream pathway from, another gene are provided. The invention further provides for use of Drosophila proteins as media additives or pesticides.

Drosophila sequences

The present invention relates to insulin-like genes and methods for identifying insulin-like genes. The methods provide nucleotide sequences of insulin-like genes, amino acid sequences of their encoded proteins, and derivatives (e.g., fragments) and analogs thereof. The invention further relates to fragments (and derivatives and analogs thereof) of insulin-like proteins which comprise one or more domains of an insulin-like protein. Antibodies to an insulin-like protein, and derivatives and analogs thereof, are provided. Methods of production of an insulin-like protein (e.g., by recombinant means), and derivatives and analogs thereof, are provided. Further, methods to identify the biological function of a insulin-like gene are provided, including various methods for the functional modification (e.g., overexpression, underexpression, mutation, knock-out) of one or more genes simultaneously. Still further, methods to identify a gene which modifies the function of, and/or functions in a signaling pathway with an insulin-like gene are provided. The invention further provides uses of Drosophila insulin-like nucliec acids and proteins, e.g., as media additives, and as pesticides.

Nucleic acids and proteins of D. melanogaster insulin-like genes and uses thereof

The invention relates generally to the gene, and mutations thereto, that are responsible for the disease hereditary hemochromatosis (HH). More particularly, the invention relates to the identification, isolation, and cloning of the DNA sequence corresponding to the normal and mutant HH genes, as well as the characterization of their transcripts and gene products. The invention also relates to methods and the like for screening for HH homozygotes and further relates to HH diagnosis, prenatal screening and diagnosis, and therapies of HH disease, including gene therapeutics, protein and antibody based therapeutics, and small molecule therapeutics.

Method for determining the presence or absence of a hereditary hemochromatosis gene mutation

Hereditary hemochromatosis gene products

A fine structure map of the 1 megabase region surrounding the candidate HH gene is provided, along with 250 KB of DNA sequence and 8 loci corresponding to candidate genes within the 1 megabase region. These loci are useful as genetic markers for further mapping studies. Additionally, the eight cDNA sequences corresponding to those loci are useful, for example, for the isolation of other genes in putative gene families, and as probes for diagnostic assays. Additionally, the proteins encoded by those cDNAs are useful in the generation of antibodies for analysis of gene expression and in diagnostic assays, and in the purification of related proteins.

Megabase transcript map: novel sequences and antibodies thereto

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South San Francisco, CA, United States of America

David Andrew Ruddy