Mecp2e1 gene

Abstract

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.

We claim: 
     
         1 . A method of detecting Rett syndrome that is associated with a point mutation in the human MECP2 gene comprising detecting the presence of a point mutation which disrupts the initiation codon in exon 1 of a nucleic acid sequence encoding the MeCP2E1 protein having the amino acid sequence of SEQ ID No.: 4 in a sample obtained from a human, wherein the sample nucleic acid sequence is compared to a control nucleic acid sequence, and wherein the position of the mutation detected corresponds to an adenine to guanine change at nucleotide position 8 of SEQ ID No.: 1, and wherein the presence of the mutation in the sample nucleic acid sequence indicates that the human has Rett syndrome. 
     
     
         2 . The method according to  claim 1  comprising:
 a) amplifying the nucleic acid sequences in the 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; 
 b) amplifying the nucleic acid sequence from the control with the same primers; 
 c) sequencing the amplified sequences; and 
 d) comparing the sample sequences to the control sequence. 
 
     
     
         3 . The method according to  claim 1  wherein the MECP2 gene comprises the nucleic acid sequence SEQ ID NO:1. 
     
     
         4 . The method according to  claim 3  wherein the presence of the mutation in the MECP2E1 transcript of the MECP2 gene comprising SEQ ID NO.: 1, wherein the MECP2E1 transcript comprises SEQ ID NO:3, is detected by performing multiplex ligation-dependent probe amplification in all four exons of the MECP2 gene sequence of SEQ ID NO.: 1. 
     
     
         5 . The method of  claim 1  wherein the nucleic acids are extracted from a cell sample prior to analysis. 
     
     
         6 . The method of  claim 1  wherein the nucleic acids in the samples are amplified prior to analysis. 
     
     
         7 . A method of detecting the presence of a point mutation in a nucleic acid molecule encoding the MeCP2E1 protein comprising:
 a) analyzing a test sample containing a nucleic acid sequence encoding the MeCP2E1 protein comprising SEQ ID NO.: 4 for a point mutation within exon 1 of said nucleic acid sequence, wherein the position of the mutation detected corresponds to an adenine to guanine change at nucleotide position 8 of SEQ ID No.: 1; and   b) comparing the results of the analysis of the test sample with the results of analysis of a control sample,   wherein the control sample comprises the nucleic acid encoding the MeCP2E1 protein comprising SEQ ID NO.: 4 without a point mutation within exon 1.   
     
     
         8 . The method according to  claim 7  wherein the nucleic acid molecule encoding the MeCP2E1 protein comprises SEQ ID NO.: 3. 
     
     
         9 . A method of detecting Rett Syndrome that is associated with a point mutation in the human MECP2E1 gene comprising:
 a) analyzing a nucleic acid sample obtained from a human for the presence or absence of a point mutation in exon 1 of the MECP2E1 transcript of the MECP2 gene comprising SEQ ID NO:1; and   b) comparing the results of step a) with results of analysis of a control nucleic acid sample,   wherein the detection of a point mutation is an adenine to guanine change at nucleotide position 8 of SEQ ID NO.: 1 indicates that the human has Rett syndrome.   
     
     
         10 . The method of  claim 9  wherein the nucleic acids are extracted from a cell sample prior to analysis. 
     
     
         11 . The method of  claim 9  wherein the nucleic acids in the samples are amplified prior to analysis.