[Cloning and expression analysis of human dystonia/deafness peptide like gene].
OBJECTIVE
To clone a new deafness associated gene.


METHODS
Molecular database search, RACE and cDNA library screen were applied.


RESULTS
A new gene, named dystonia/deafness peptide like (DDPL) (GeneBank Accession Number: DDPL2 AF165967) and mapped to 11q22.1-22.2, was cloned. DDPL had two different mRNA splicing types and accordingly encoded 83 and 51 amino acids. DDPL transcripts were detected in a range of adult and fetal tissues. A pseudogene of DDPL, named DDPLphi which was shown lying within Xq25-q26, showed 96.9% sequence identity with DDPL1 cDNA sequence across 382 bp.


CONCLUSIONS
DDPL lies within the 5.2 Mb interval of 11q22.1-q22.2 between D11S939 and D11S1347, and has a high identity with the DFN-1/MTS associated gene-DDP.
Xia
J
J
National Laboratory of Medical Genetics. Hunan Medical University. ChangSha 410078, China.
He
Y
Y
Zeng
Z
Z
D000328:Adult; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11; D003001:Cloning, Molecular; D018076:DNA, Complementary; D003638:Deafness / Q000235:genetics*; D020821:Dystonic Disorders / Q000235:genetics*; D015870:Gene Expression; D006801:Humans; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D024101:Mitochondrial Proteins; D008969:Molecular Sequence Data; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
D018076:DNA, Complementary; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D024101:Mitochondrial Proteins; D011506:Proteins; C118122:TIMM8A protein, human; C462543:TIMM8B protein, human