PMID- 14571137 OWN - NLM STAT- MEDLINE DCOM- 20040315 LR - 20171101 IS - 1424-859X (Electronic) IS - 1424-8581 (Linking) VI - 101 IP - 1 DP - 2003 TI - Cloning and genomic organization of the TTL gene on mouse chromosome 2 and human chromosome 2q13. PG - 47-53 AB - Tubulin tyrosine ligase (TTL) is a cytosolic enzyme involved in the posttranslational modification of tubulin. In the assembled form microtubules are detyrosinated over time at the C-terminus of alpha-tubulin. After microtubular disassembly TTL restores tyrosine residues back to the detyrosinated tubulin leading to a cycle of detyrosination/tyrosination. Here we report the isolation of the human and mouse TTL cDNA. In comparison with other known TTL sequences, namely bovine, rat and porcine, we found that only porcine TTL deviates in length by having an insertion of two glutamate residues. In mouse and human TTL the genomic coding sequence is composed of seven exons with normal intron/exon boundaries. Using fluorescence in situ hybridization (FISH), we mapped the murine TTL gene to mouse chromosome 2 (MMU2). Human TTL has been located to chromosome 2q13 (HSA2q13). In addition, we found frequently truncated PCR products of hTTL transcripts with aberrant splicing in tumors. CI - Copyright 2003 S. Karger AG, Basel FAU - Erck, C AU - Erck C AD - Department of Cell Biology, German Research Center of Biotechnology, Braunschweig, Germany. cer@gbf.de FAU - MacLeod, R A F AU - MacLeod RA FAU - Wehland, J AU - Wehland J LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - Switzerland TA - Cytogenet Genome Res JT - Cytogenetic and genome research JID - 101142708 RN - 0 (DNA, Complementary) RN - 9007-49-2 (DNA) RN - EC 6.3.2.- (Peptide Synthases) RN - EC 6.3.2.- (tyrosyltubulin ligase) SB - IM MH - 5' Flanking Region/genetics MH - Alternative Splicing MH - Amino Acid Sequence MH - Animals MH - Base Sequence MH - Cell Line, Tumor MH - Chromosome Mapping MH - Chromosomes, Human, Pair 2/*genetics MH - Chromosomes, Mammalian/*genetics MH - Cloning, Molecular MH - DNA/chemistry/genetics MH - DNA, Complementary/chemistry/genetics MH - Exons MH - Genes/genetics MH - HeLa Cells MH - Humans MH - In Situ Hybridization, Fluorescence MH - Introns MH - Mice MH - Mice, Inbred Strains MH - Molecular Sequence Data MH - NIH 3T3 Cells MH - Peptide Synthases/*genetics MH - Phylogeny MH - Reverse Transcriptase Polymerase Chain Reaction MH - Sequence Alignment MH - Sequence Analysis, DNA MH - Sequence Homology, Amino Acid MH - Sequence Homology, Nucleic Acid EDAT- 2003/10/23 05:00 MHDA- 2004/03/17 05:00 CRDT- 2003/10/23 05:00 PHST- 2002/12/11 00:00 [received] PHST- 2003/04/09 00:00 [accepted] PHST- 2003/10/23 05:00 [pubmed] PHST- 2004/03/17 05:00 [medline] PHST- 2003/10/23 05:00 [entrez] AID - 73418 [pii] AID - 10.1159/000073418 [doi] PST - ppublish SO - Cytogenet Genome Res. 2003;101(1):47-53. doi: 10.1159/000073418.