Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain development.

The Journal of Comparative Neurology
Yukiko NakamuraVance Lemmon

Abstract

Mutations in the human L1CAM gene cause X-linked hydrocephalus and MASA (Mental retardation, Aphasia, Shuffling gait, Adducted thumbs) syndrome. In vitro studies have shown that the L1 cytoplasmic domain (L1CD) is involved in L1 trafficking, neurite branching, signaling, and interactions with the cytoskeleton. L1cam knockout (L1(KO)) mice have hydrocephalus, a small cerebellum, hyperfasciculation of corticothalamic tracts, and abnormal peripheral nerves. To explore the function of the L1CD, we made three new mice lines in which different parts of the L1CD have been altered. In all mutant lines L1 protein is expressed and transported into the axon. Interestingly, these new L1CD mutant lines display normal brain morphology. However, the expression of L1 protein in the adult is dramatically reduced in the two L1CD mutant lines that lack the ankyrin-binding region and they show defects in motor function. Therefore, the L1CD is not responsible for the major defects observed in L1(KO) mice, yet it is required for continued L1 protein expression and motor function in the adult.

References

Aug 1, 1976·Developmental Medicine and Child Neurology·R N HoltzmanR Koenigsberger
Apr 1, 1992·American Journal of Medical Genetics·V R MaciasG N Wilson
Nov 1, 1987·Proceedings of the National Academy of Sciences of the United States of America·C Lagenaur, V Lemmon
Feb 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·W B Stallcup, L Beasley
Feb 1, 1986·Journal of Medical Genetics·J HallidayD M Danks
Sep 1, 1993·Cell Adhesion and Communication·M GrumetG M Edelman
Dec 1, 1995·The Journal of Cell Biology·M RuppertP Altevogt
Feb 1, 1996·The Journal of Cell Biology·A M MontgomeryR A Reisfeld
Jan 1, 1996·Journal of Medical Genetics·S KenwrickD Donnai
Jan 1, 1997·Human Molecular Genetics·E FransenP J Willems
Feb 7, 1998·Proceedings of the National Academy of Sciences of the United States of America·S O'GormanY Marchuk
Oct 15, 1998·Molecular and Cellular Neurosciences·H KamiguchiV Lemmon
Mar 3, 1999·Proceedings of the National Academy of Sciences of the United States of America·R MeechF S Jones
Sep 9, 2000·Current Opinion in Cell Biology·H Kamiguchi, V Lemmon
Feb 13, 2001·Brain Research·B RolfU Bartsch
Feb 15, 2001·Brain Research. Developmental Brain Research·G P DemyanenkoP F Maness
Jun 19, 2002·The Journal of Cell Biology·Tracey C DicksonStephen R J Salton
Jul 26, 2002·Molecular and Cellular Neurosciences·Ourania PavlouDomna Karagogeos
Mar 5, 2003·Advances in Experimental Medicine and Biology·V Castellani
Aug 6, 2003·The Journal of Comparative Neurology·C David MintzDeanna L Benson
Sep 6, 2003·Frontiers in Bioscience : a Journal and Virtual Library·Jeffrey Haspel, Martin Grumet
Oct 1, 2003·The Journal of Cell Biology·Dolora WiscoBettina Winckler

❮ Previous
Next ❯

Citations

Mar 1, 2012·Cell and Tissue Research·Michael K E Schäfer, Michael Frotscher
Jun 25, 2013·Cellular and Molecular Neurobiology·Xing-Gang MaoXiang Zhang
Jan 19, 2013·Molecular Neurobiology·Haiwei XuXiaotang Fan
Sep 10, 2011·Protein & Cell·Yiliang XuJane Y Wu
Jul 28, 2012·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Puneet DangAndrew J W Furley
May 15, 2012·Molecular and Cellular Neurosciences·Jinxia DaiPatricia F Maness
Jan 5, 2011·Trends in Molecular Medicine·Helena KiefelPeter Altevogt
Sep 21, 2010·The Journal of Comparative Neurology·Shannon D ShieldsAllan I Basbaum
Oct 23, 2010·The European Journal of Neuroscience·Joshua BarryChen Gu
Mar 24, 2016·The Journal of Experimental Medicine·Christopher PatzkeThomas C Südhof
Aug 27, 2016·Molecular and Cellular Neurosciences·Takeshi Sakurai
Sep 11, 2019·The Journal of Clinical Endocrinology and Metabolism·Louise C GregoryMehul T Dattani

❮ Previous
Next ❯

Related Concepts

Related Feeds

Aphasia

Aphasia affects the ability to process language, including formulation and comprehension of language and speech, as well as the ability to read or write. Here is the latest research on aphasia.

© 2021 Meta ULC. All rights reserved