Human gene critical to fertility
AssigneeThe Government of the U.S.A. as represented by the Secretary of the Dept. of Health & Human Services
InventorsLawrence M. Nelson, Zhi-Bin Tong
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Abstract
Disclosed herein are novel nucleic acid and protein sequences that are essential to fertility. In particular, human Mater genomic, cDNA and protein sequences are provided, as are fragments and variants thereof. Functional MATER is required for female fertility; zygotes that arise from Mater null oocytes do not progress beyond the two-cell stage. Methods are described for using Mater molecules in diagnoses, prognosis, and treatment of infertility and reduced fertility, and kits related to such methods. Also provided are methods for using MATER as a contraceptive agent. The disclosure also describes compounds involved in such methods, and the identification of such compounds.
Claims31
An isolated variant MATER protein comprising an amino acid sequence
- (a) having at least 90% sequence identity to SEQ ID NO:
- 2, SEQ ID NO:
- 4, or SEQ ID NO:
- 24, and comprising at least one variant amino acid in a recognized MATER protein domain;
- or
- (b) having at least 90% sequence identity to SEQ ID NO:
- 2, SEQ ID NO:
- 4, or SEQ ID NO:
- 24, and comprising at least one variant amino acid in a region outside of a recognized MATER protein domain;
- or
- (c) having at least 90% sequence identity to SEQ ID NO:
- 2, SEQ ID NO:
- 4, or SEQ ID NO:
- 24, and comprising at least one variant amino acid in a recognized MATER protein domain and at least one variant amino acid outside of a recognized MATER protein domain.
A method of detecting in a subject a biological condition associated with an abnormal MATER nucleic acid, comprising reacting at least one MATER nucleic acid in a clinical sample from the subject with a reagent comprising a MATER-specific nucleic acid binding agent to form a MATER:agent complex, and detecting the complex.
A kit for detection of a genetic mutation in a sample of nucleic acid, comprising:
- (a) a first container containing an oligonucleotide capable of specifically hybridizing with a MATER nucleic acid, which oligonucleotide has a sequence comprising at least 10 contiguous nucleotides from an human MATER intron;
- and
- (b) a second container containing a fluorescent labeled nucleic acid probe that is fully complementary to the oligonucleotide.
Dependencies are inferred from the claim text.