Title:
MECP2E1 GENE
Document Type and Number:
Japanese Patent JP2016027799
Kind Code:
A
Abstract:
PROBLEM TO BE SOLVED: To provide a novel MECP2E1 splice variant and its corresponding polypeptide, and to provide an isolated nucleic acid molecule encoding a MECP2E1 protein, in association with Rett syndrome.SOLUTION: The invention relates to an isolated nucleic acid molecule comprising the following (a) to (f): (a) a nucleic acid sequence encoding a MECP2E1 protein having a specific sequence; (b) a nucleic acid sequence complementary to (a); (c) a nucleic acid sequence having substantial homology to (a) or (b); (d) a nucleic acid sequence that is an analog of a nucleic acid sequence of (a), (b), or (c); (e) a fragment of (a) to (d) that is at least 15 bases, preferably 20 to 30 bases, and which hybridizes to a nucleic acid sequence of (a), (b), (c) or (d) under stringent hybridization conditions; or (f) a nucleic acid molecule differing from any of the nucleic acids of (a) to (c) in codon sequences due to the degeneracy of the genetic code.SELECTED DRAWING: None
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Inventors:
MINASSIAN BERGE A
VINCENT JOHN B
VINCENT JOHN B
Application Number:
JP2015147517A
Publication Date:
February 25, 2016
Filing Date:
July 27, 2015
Export Citation:
Assignee:
HOSPITAL FOR SICK CHILDREN
CAMH
CAMH
International Classes:
C12N15/09; A61K31/7088; A61K38/00; A61K39/395; A61K48/00; A61P25/00; A61P25/18; A61P25/28; C07K14/47; C07K16/18; C12N1/15; C12N1/19; C12N1/21; C12N5/10; C12Q1/68; G01N33/53; G01N33/531
Foreign References:
| WO2002068579A2 | 2002-09-06 |
Other References:
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ＥＵＲ．Ｊ．ＨＵＭ．ＧＥＮＥＴ．，ＶＯＬ．１３，ＮＯ．１（ＥＰＵＢ．２００４．ＳＥＰ．１５）Ｐ．１２, JPN6014017136, 15 September 2004 (2004-09-15), JP, ISSN: 0003570410
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Attorney, Agent or Firm:
Hatsushi Shimizu
Koichi Niimi
Koichi Niimi
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