DAZ genes
AssigneeWhitehead Institute for Biomedical Research
InventorsRicha Saxena, David C. Page, Helen Skaletsky
Life of this patent
Estimating the term…
Abstract
Four DAZ genes in the AZFc region of the human Y chromosome are disclosed. Methods of using the disclosed genes and gene products are described, along with methods and reagents to distinguish between the DAZ genes are also described.
Claims36
An isolated nucleic acid molecule comprising a nucleotide sequence selected from the group consisting of:
- a) SEQ ID NOS:
- 1, 3, 5, 7 and 9-23;
- and
- b) the complement of SEQ ID NOS:
- 1, 3, 5, 7 and 9-23.
An isolated nucleic acid molecule selected from the group consisting of nucleotide 197 to nucleotide 1873 of SEQ ID NO:
- 1, nucleotide 189 to nucleotide 1649 of SEQ ID NO:
- 3, and nucleotide 1 to nucleotide 1242 of SEQ ID NO:
- 5.
An isolated nucleic acid molecule consisting of a nucleotide sequence selected from the group consisting of:
- a) SEQ ID NOS:
- 1, 3, 5, 7 and 9-23;
- and
- b) the complement of SEQ ID NOS:
- 1, 3, 5, 7 and 9-23.
A portion of an isolated nucleic acid molecule consisting of a nucleotide sequence selected from the group consisting of:
- a) SEQ ID NOS:
- 1, 3, 5, 7 and 9-23;
- and
- b) the complement of SEQ ID NOS:
- 1, 3, 5, 7 and 9-23;
- wherein the portion is at least about 10 contiguous nucleotides in length.
A method for assaying for the presence of a DAZ polypeptide in a sample, comprising contacting said sample with an agent which specifically detects the DAZ polypeptide.
An isolated polypeptide comprising an amino acid sequence selected from the group consisting of SEQ ID NOS:
- 2, 4, 6 and 8.
An isolated nucleic acid molecule comprising a nucleotide sequence which is at least about 60% identical to a nucleotide sequence selected from the group consisting of:
- a) SEQ ID NOS:
- 1, 3, 5, 7 and 9-23;
- and
- b) the complement of SEQ ID NOS:
- 1, 3, 5, 7 and 9-23.
An isolated nucleic acid molecule which hybridizes under high stringency conditions to a nucleotide sequence selected from the group consisting of:
- a) SEQ ID NOS:
- 1, 3, 5, 7 and 9-23;
- and
- b) the complement of SEQ ID NOS:
- 1, 3, 5, 7 and 9-23.
An isolated nucleic acid molecule encoding SEQ ID NO:
- 2.
An isolated nucleic acid molecule encoding SEQ ID NO:
- 4.
An isolated nucleic acid molecule encoding an amino acid sequence selected from the group consisting of SEQ ID NO:
- 6 and SEQ ID NO:
- 8.
A method for assaying the presence of a DAZ nucleic acid molecule in a sample, comprising;
- a) contacting said sample with a nucleotide sequence selected from the group consisting of:
- i) SEQ ID NOS:
- 1, 3, 5, 7 and 9-23;
- ii) the complement of SEQ ID NOS:
- 1, 3, 5, 7 and 9-23;
- iii) a portion of any one of SEQ ID NOS:
- 1, 3, 5, 7 and 9-23 which is at least 10 contiguous nucleotides in length;
- and
- iv) a portion of the complement of any one of SEQ ID NOS:
- 1, 3, 5, 7 and 9-23, which is at least 10 contiguous nucleotides in length, under conditions appropriate for selective hybridization, such that the nucleotide sequence binds to complementary nucleic acid molecule in the sample, if present;
- and
- b) detecting the hybridized nucleotide sequence.
A method for distinguishing a DAZ gene of interest from other DAZ genes by detecting sequence family variants comprising;
- a) conducting at least one amplification reaction to amplify at least one region of a DAZ gene;
- b) digesting the amplified product with a restriction endonuclease;
- and
- c) detecting products of the digestion, wherein the products of the digestion distinguishes the DAZ gene of interest from other DAZ genes.
An isolated polypeptide comprising an amino acid selected from the group consisting of SEQ ID NOS:
- 2, 4, 6 and 8.
A method for analyzing a sample for the presence of DAZ gene product, comprising;
- a) contacting said sample with an antibody specific for a polypeptide selected from the group consisting of:
- SEQ ID NOS:
- 2, 4, 6 and 8;
- under conditions appropriate for the antibody to bind said polypeptide, if present, in the sample;
- and
- b) detecting the bound antibody
A method for identifying an agent that alters the activity of a DAZ polypeptide comprising contacting a polypeptide, or functional fragment thereof, selected from the group consisting of:
- (a) SEQ ID NO:
- 2;
- (b) SEQ ID NO:
- 4;
- (c) SEQ ID NO:
- 6;
- (d) SEQ ID NO:
- 8;
- (e) an amino acid sequence encoded by SEQ ID NO:
- 1;
- (f) an amino acid sequence encoded by SEQ ID NO:
- 3;
- (g) an amino acid sequence encoded by SEQ ID NO:
- 5;
- (h) an amino acid sequence encoded by SEQ ID NO:
- 7;
- and
- (i) functional fragments of (a)-(h)
- with an agent to be tested, determining the level of activity of the polypeptide in the presence of the agent, and comparing said level of activity with the level of activity of the polypeptide in the absence of the agent, wherein a statistically-significant change in activity is indicative that the agent alters the activity of the polypeptide.
A method of treating an individual having a disorder associated with reduced DAZ activity comprising administering a therapeutically-effective amount of a DAZ agonist.
A method of reducing the fertility of an individual comprising administering a therapeutically-effective amount of a DAZ antagonist.
Dependencies are inferred from the claim text.