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US 2015/0315640 A1Published application
Identification of the dcps gene on 11q24.2, which encodes the human decapping enzyme scavenger, in non-syndromic autosomal recessive mental retardation, diagnostic probes thereof and methods of identifying subjects with same
AssigneeCentre for Addiction and Mental Health
InventorJohn B. Vincent
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Abstract
Provided herein is a DCPS nucleotide sequence on 11q24.2, which encodes the human decapping enzyme scavenger, associated with non-syndromic autosomal recessive mental retardation, diagnostic probes thereof, mutant proteins encoded thereby and methods of identifying subjects with same.
Claims16
A Decapping Enzyme Scavenger nucleotide sequence associated with Non-Syndromic Autosomal Recessive Mental Retardation, the nucleotide sequence comprising:
- a) at least 7 consecutive nucleotides of SEQ ID NO:
- 2 and comprising “A” at position 51, or a sequence complementary thereto;
- b) at least 7 consecutive nucleotides of SEQ ID NO:
- 4 and further comprising ATAAAGGTTTCTGGCTGGAATGTCCTGATCTCTGGCCACCCTGCT defined by SEQ ID NO:
- 13, or a fragment thereof, or a nucleotide sequence that is complementary thereto;
- c) at least 7 consecutive nucleotides of SEQ ID NO:
- 8 and comprising T at position 271, or a sequence complementary thereto, or;
- d) at least 7 consecutive nucleotides of SEQ ID NO:
- 12 and further comprising T at position 947, or a sequence complementary thereto;
- e) at least 80% identity to the nucleotide sequence defined in any one of a)-d).
7 more elements
A polypeptide defined by SEQ ID NO:
- 6 or SEQ ID NO:
- 10.
An antibody that binds to the polypeptide sequence defined by
- IKVSGWNVLISGHPA (SEQ ID NO:
- 14) or SEQ ID NO:
- 10 when comprising Met at position 3 16.
Dependencies are inferred from the claim text.