The invention is a novel MECP2E1 splice variant and its corresponding polypeptide. The invention also includes methods of using these nucleic acid sequences and proteins in medical diagnosis and treatment of neuropsychiatric disorders or development disorders.
1. A method of detecting a mutation in the human MECP2 gene, comprising:
(a) contacting an MECP2 nucleic acid in a human sample with a labeled oligonucleotide that hybridizes under stringent conditions to the sequence portion within the MECP2 nucleic acid comprising the mutation; and
(b) detecting the hybridization of the labeled oligonucleotide with the MECP2 nucleic acid under stringent hybridization conditions, wherein detection of hybridization indicates that the mutation is present in the MECP2 nucleic acid;
wherein the mutation is selected from the group consisting of: (i) a deletion of the nucleotide sequence GC at nucleotides −38 and −39 upstream of a position corresponding to nucleotide 1 of SEQ ID NO. 1; and (ii) a deletion of the nucleotide sequence AG at nucleotides −19 and −20 upstream of a position corresponding to nucleotide 1 of SEQ ID NO. 1.
2. The method of claim 1 , wherein the oligonucleotide is detectably labelled with a radioactive label, a fluorescent compound, an enzyme, or chemiluminescent compound.
3. The method of claim 1 , wherein the mutation is a deletion of the nucleotide sequence GC at nucleotides −38 and −39 upstream of a position corresponding to nucleotide 1 of SEQ ID NO. 1.
4. The method of claim 1 , wherein the mutation is a deletion of the nucleotide sequence AG at nucleotides −19 and −20 upstream of a position corresponding to nucleotide 1 of SEQ ID NO. 1.
5. The method according to claim 1 , wherein the method further comprises: amplifying the MECP2 nucleic acid in the human sample with primers X1F (5′-CCATCACAGCCAATGACG-3′) (SEQ ID No. 19) and X1R (5′-AGGGGGAGGGTAGAGAGGAG-3′) (SEQ ID No. 20) in a polymerase chain reaction.
6. The method according to claim 1 , wherein the MECP2E1 nucleic acid from the sample comprises SEQ ID NO:3.
7. The method of claim 1 , further comprising extracting the nucleic acid from the human sample.
8. The method of claim 1 , further comprising amplifying the nucleic acid in the human sample.
9. The method according to claim 1 , wherein the method further comprises performing an assay selected from the group consisting of multiplex ligation-dependent probe amplification, direct sequencing, polymerase chain reaction, reverse transcription-polymerase chain reaction, denaturing high performance liquid chromatography, electrophoretic mobility, and fluorescent in situ hybridization.