TY - JOUR
T1 - Mutations in the Caenorhabditis elegans β-tubulin gene mec-7
T2 - Effects on microtubule assembly and stability and on tubulin autoregulation
AU - Savage, Cathy
AU - Xue, Yingzi
AU - Mitani, Shohei
AU - Hall, David
AU - Zakhary, Randa
AU - Chalfie, Martin
PY - 1994/8
Y1 - 1994/8
N2 - We have sequenced 45 mutations in mec-7, a β-tubulin gene required for the production of 15-protofilament microtubules in the nematode Caenorhabditis elegans, and have correlated sequence alterations with mutant phenotypes. The expression patterns of most alleles have also been determined by in situ hybridization and immunocytochemistry. Most (12/16) complete loss-of-function alleles, which are recessive, result from nonsense mutations, insertions, or deletions; three others disrupt a putative GTP-binding domain. Three of the four loss-of-function, missense mutations result in elevated mec-7 message levels, suggesting a defect in tubulin autoregulation that may be attributable to a loss in the ability to form heterodimers. Most (8/9) mild alleles are caused by missense mutations. Two mild alleles appear to increase microtubule stability and lead to the elaboration of ectopic neuronal processes in mec-7-expressing cells. Most (15/23) mutations that cause severe dominant or semidominant phenotypes are clustered into three discrete domains; four others occur in putative GTP-binding regions. Many of these dominant mutations appear to completely disrupt microtubule assembly.
AB - We have sequenced 45 mutations in mec-7, a β-tubulin gene required for the production of 15-protofilament microtubules in the nematode Caenorhabditis elegans, and have correlated sequence alterations with mutant phenotypes. The expression patterns of most alleles have also been determined by in situ hybridization and immunocytochemistry. Most (12/16) complete loss-of-function alleles, which are recessive, result from nonsense mutations, insertions, or deletions; three others disrupt a putative GTP-binding domain. Three of the four loss-of-function, missense mutations result in elevated mec-7 message levels, suggesting a defect in tubulin autoregulation that may be attributable to a loss in the ability to form heterodimers. Most (8/9) mild alleles are caused by missense mutations. Two mild alleles appear to increase microtubule stability and lead to the elaboration of ectopic neuronal processes in mec-7-expressing cells. Most (15/23) mutations that cause severe dominant or semidominant phenotypes are clustered into three discrete domains; four others occur in putative GTP-binding regions. Many of these dominant mutations appear to completely disrupt microtubule assembly.
KW - Caenorhabditis elegans
KW - β-tubulin autoregulation
KW - β-tubulin mutation
UR - http://www.scopus.com/inward/record.url?scp=0028133187&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028133187&partnerID=8YFLogxK
M3 - Article
C2 - 7983175
AN - SCOPUS:0028133187
SN - 0021-9533
VL - 107
SP - 2165
EP - 2175
JO - Journal of cell science
JF - Journal of cell science
IS - 8
ER -