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brief communications nature genetics volume 30 march 2002 257

Summary: brief communications
nature genetics volume 30 march 2002 257
The semidominant Bth mutation arose
in a large-scale ENU (N-ethyl-N-
nitrosourea) mutagenesis program2. Bth
was mapped by a standard backcross
approach (Fig. 1a) to a 4.4-cM region on
proximal chromosome 19. This region
includes the dn locus3 as well as Bth. Based
on the deafness mutations identified in
TMC1 by Kurima and colleagues1 and its
predicted conserved linkage on chromo-
some 19 within the Bth interval, the
mouse ortholog, Tmc1, was a good candi-
date. We used cDNA from Bth/Bth and
wildtype brain to sequence the coding
region of Tmc1, and we used genomic
DNA to sequence splice sites. We identi-
fied a TA transversion (1235TA) in
exon 13 of the Bth sequence, predicted to


Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University


Collections: Biology and Medicine