Sequence Characterization of a Newly Identified Human α-Tubulin Gene (TUBA2)

We report on the isolation and initial characterization of a human α-tubulin gene namedTUBA2.This gene is located in the 13q11 region and has been considered a candidate gene for two nonsyndromic deafnesses, DFNB1 and DFNA3. The gene, with a minimum size of 6.5 kb, contains five exons and four introns starting at codon positions 1, 76, 125, and 352, one of which is inserted between the initiation methionine codon and the codon specifying the second amino acid, arginine 2. Neither rearrangement nor point mutation was found in the coding region of the gene in DFNB1- and DFNA3-affected patients. The gene was therefore unlikely to be responsible for either of these deafnesses. During the characterization ofTUBA2,the gene encodingconnexin 26was proven to be responsible for both DFNB1 and DFNA3 (D. P. Kelsellet al.,1997,Nature387: 80–83). However, the present data offer the possibility of testing the involvement of theTUBA2gene in the Clouston hidrotic ectodermal dysplasia and the Kabuki syndrome, two genetic diseases that have recently been mapped to the 13q11 region.