Embryonic lethality caused by mutations in basement membrane collagen of C. elegans

• Published in: Nature (London) Vol. 349; no. 6311; pp. 707 - 709
• Main Authors: Guo, Xiaodu, Johnson, Jeffrey J, Kramer, James M
• Format: Journal Article
• Language: English
• Published: London Nature Publishing 21.02.1991; Nature Publishing Group
• Subjects: Amino Acid Sequence; Animals; Base Sequence; Basement Membrane - chemistry; Basement membranes; Biological and medical sciences; Caenorhabditis - embryology; Caenorhabditis - genetics; Caenorhabditis - growth & development; Caenorhabditis elegans; Cellular biology; Chains; Collagen; Collagen (type IV); Collagen - genetics; Collagen - physiology; Defects; Embryogenesis; Embryonic growth stage; Extracellular matrix; Fundamental and applied biological sciences. Psychology; Genes; Genetic analysis; Genotype & phenotype; Glutamic acid; Glycine; Humans; Lethality; Medical research; Membranes; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; Mutagenesis. Repair; Mutation; Sequence Homology, Nucleic Acid; Temperature; New York; United States > US; Caenorhabditis elegans; Embryonic development; Nucleotide sequence; Collagen; Mortality; Helmintha; Nemathelminthia; Glycoproteins; Mutation; Invertebrata; Nematoda
• ISSN: 0028-0836; 1476-4687
• DOI: 10.1038/349707a0

Basement membranes are specialized forms of extracellular matrix with important functions in development. A major structural component of basement membranes is type IV collagen, a heterotrimer of two alpha 1(IV) and one alpha 2(IV) chains, which forms a complex, polygonal network associated with other basement membrane components. Here we report that the alpha 1(IV) collagen chain of Caenorhabditis elegans is encoded by the genetic locus emb-9. Mutations in emb-9 cause temperature-sensitive lethality during late embryogenesis. We have identified single nucleotide alterations that substitute glutamic acid for glycine in the triple-helical Gly-X-Y repeat region of the alpha 1(IV) collagen in three emb-9 mutant strains. These results are direct evidence that defects in basement membranes can disrupt embryonic development and form a basis for the genetic analysis of basement membrane function.