Gp. Vatcher et al., SERINE HYDROXYMETHYLTRANSFERASE IS MATERNALLY ESSENTIAL IN CAENORHABDITIS-ELEGANS, The Journal of biological chemistry, 273(11), 1998, pp. 6066-6073
The mel-32 gene in the free living soil nematode Caenorhabditis elegan
s encodes a serine hydroxymethyltransferase (SHMT) isoform, Seventeen
ethylmethanesulfonate (EMS)-induced mutant alleles of mel-32(SHMT) hav
e been generated, each of which causes a recessive maternal effect let
hal phenotype. Animals homozygous for the SHMT mutations have no obser
vable mutant phenotype, but their offspring display an embryonic letha
l phenotype, The Mel-32 phenotype has been rescued with a transgenic a
rray containing only mel-32(SHMT) genomic DNA, Heteroduplex analysis o
f the 17 alleles allowed 14 of the mutations to be positioned to small
regions, Subsequent sequence analysis has shown that 16 of the allele
s alter highly conserved amino acids, while one allele introduces a st
op codon that truncates two thirds of the predicted protein, mel-32(SH
MT) has a 55-60% identity at the amino acid level with both isoforms o
f SHMT found in yeast and humans and a 50% identity with the Escherich
ia coli isoform, The C, elegans mel-32 mutation represents the first c
ase where SHMT has been shown to be an essential gene.