PMID: 9166417Jun 2, 1997Paper

Characterization of alpha1(IV) collagen mutations in Caenorhabditis elegans and the effects of alpha1 and alpha2(IV) mutations on type IV collagen distribution

The Journal of Cell Biology
M C GuptaJ M Kramer

Abstract

Type IV collagen is a major component of basement membranes. We have characterized 11 mutations in emb-9, the alpha1(IV) collagen gene of Caenorhabditis elegans, that result in a spectrum of phenotypes. Five are substitutions of glycines in the Gly-X-Y domain and cause semidominant, temperature-sensitive lethality at the twofold stage of embryogenesis. One is a glycine substitution that causes recessive, non-temperature-sensitive larval lethality. Three putative null alleles, two nonsense mutations and a deletion, all cause recessive, non-temperature-sensitive lethality at the threefold stage of embryogenesis. The less severe null phenotype indicates that glycine substitution containing mutant chains dominantly interfere with the function of other molecules. The emb-9 null mutants do not stain with anti-EMB-9 antisera and show intracellular accumulation of the alpha2(IV) chain, LET-2, indicating that LET-2 assembly and/or secretion requires EMB-9. Glycine substitutions in either EMB-9 or LET-2 cause intracellular accumulation of both chains. The degree of intracellular accumulation differs depending on the allele and temperature and correlates with the severity of the phenotype. Temperature sensitivity appears to result from re...Continue Reading

References

Aug 10, 1976·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·J G WhiteS Brenner
Oct 1, 1979·Proceedings of the National Academy of Sciences of the United States of America·U Francke, R T Taggart
Jan 1, 1991·Annual Review of Biophysics and Biophysical Chemistry·J Engel, D J Prockop
Aug 1, 1991·The Journal of Cell Biology·R J Barstead, R H Waterston
Jan 1, 1990·Annals of the New York Academy of Sciences·P D Yurchenco
May 11, 1989·Nucleic Acids Research·A J MontandonD R Bentley
Dec 5, 1974·Journal of Molecular Biology·R H WaterstonS Brenner
May 1, 1974·Genetics·S Brenner
May 1, 1981·Developmental Biology·R CassadaG von Ehrenstein
Feb 1, 1995·Matrix Biology : Journal of the International Society for Matrix Biology·K Kühn
Jan 1, 1994·Annual Review of Genetics·J M Kramer
Dec 1, 1996·Genes & Development·D CosgroveG C Samuelson

❮ Previous
Next ❯

Citations

Dec 31, 2003·Trends in Genetics : TIG·Johanna Myllyharju, Kari I Kivirikko
Sep 28, 1998·Matrix Biology : Journal of the International Society for Matrix Biology·S SasakiC E Kashtan
Nov 15, 2000·Clinical Genetics·P H Byers
Feb 16, 2012·European Journal of Human Genetics : EJHG·Elly VerbeekGrazia M S Mancini
Jul 31, 2012·Nature Chemical Biology·Gautam BhaveBilly G Hudson
Apr 7, 2006·The New England Journal of Medicine·Douglas B GouldSimon W M John
Dec 28, 2007·The New England Journal of Medicine·Emmanuelle PlaisierPierre Ronco
Dec 24, 2008·Proceedings of the National Academy of Sciences of the United States of America·Yukihiko KubotaKiyoji Nishiwaki
Aug 19, 2005·Journal of Medical Genetics·G BreedveldG M S Mancini
Apr 27, 2012·Development·Jeffrey P RasmussenJames R Priess
Apr 26, 2000·Proceedings of the National Academy of Sciences of the United States of America·L FriedmanJ Kimble
Dec 18, 2013·Proceedings of the National Academy of Sciences of the United States of America·Aaron L FidlerBilly G Hudson
Jan 21, 2014·Connective Tissue Research·Christopher F Cummings, Billy G Hudson
Mar 6, 2010·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Huimin Zhang, Michel Labouesse
Mar 29, 2014·Journal of Tissue Engineering and Regenerative Medicine·Timothy J Keane, Stephen F Badylak
May 25, 2016·The Journal of Cell Biology·Christopher F CummingsBilly G Hudson
Jun 9, 2004·Current Biology : CB·Michael F PortereikoSusan E Mango
May 30, 2009·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Siddharth ShahPhilip Jardine
Jul 23, 2014·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·Michael McMurray
Apr 24, 2012·Annals of Neurology·Yi-Chinn WengDouglas B Gould
Aug 19, 2007·Annals of Neurology·Igor SibonCyril Goizet
Dec 6, 2014·Molecules and Cells·Juyeon LeeJeong Hoon Cho
Mar 19, 2020·Journal of Developmental Biology·Cátia A Carvalho, Limor Broday
Jan 5, 2016·PLoS Neglected Tropical Diseases·Cristina BallesterosTimothy G Geary
Aug 29, 2017·Protein Science : a Publication of the Protein Society·Kyle L BrownBilly G Hudson

❮ Previous
Next ❯

Related Concepts

Related Feeds

Basement Membranes

Basement membranes are thin, specialized extracellular matrices surrounding most tissues in all metazoans. Here is the latest research on basement membranes.