Disease relevance of TNNT3

• Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B [1].

High impact information on TNNT3

• Here we map two additional genes, the first encoding a ubiquitously expressed RNA, 2G7, and the second encoding the fast isoform of skeletal muscle troponin-T (TNNT3), in the 55 kb of DNA downstream of L23MRP [2].
• Parallel expression of H19 and TNNT3 in different adult skeletal muscle types suggests that these genes may share an enhancer [2].
• We have described a large Chinese DA family in which different individuals had phenotypes similar to DA1 or DA2B [3].
• Here, we have isolated two independent human PAC genomic clones that contain either TNNI2 or TNNT3 and demonstrate by interphase FISH mapping that they are less than 100 kb apart in the genome [4].
• We have previously shown that the fast skeletal muscle troponin I gene is located at 11p15.5 and noted potential close linkage with the fast skeletal muscle troponin T gene (TNNT3) [4].

Biological context of TNNT3

• Assignment of the human fast skeletal troponin T gene (TNNT3) to chromosome 11p15.5: evidence for the presence of 11pter in a monochromosome 9 somatic cell hybrid in NIGMS mapping panel 2 [5].
• This TnTf-specific PCR product was detected from two somatic cell hybrids containing human chromosomes 9 and 11, respectively, in NIGMS mapping panel 2 [5].
• The cDNA-derived amino acid sequence is the first available sequence for human beta TnTf protein [6].
• Moreover, comparison of teleost fTnTs suggests that alternative splicing of fTnT appears to be common in teleosts [7].

Analytical, diagnostic and therapeutic context of TNNT3

• Specific primers designed from the 3' end of human TnTf cDNA were used to amplify an intronic region by polymerase chain reaction (PCR) [5].
• Comparative sequence analysis reveals that the human beta TnTf shares a high level of sequence similarity in the coding region with other vertebrate TnTf and considerably reduced similarity with slow skeletal and cardiac TnT cDNAs [6].

References