Literature DB >> 10320784

Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.

R E Swiderski1, L Ying, M D Cassell, W L Alward, E M Stone, V C Sheffield.   

Abstract

The MYOC (GLC1A) gene has recently been associated with both juvenile-onset primary open angle glaucoma (JOAG) and typical late-onset primary open angle glaucoma (POAG). As a result, much scrutiny has been focused on the pathology of these diseases. In order to better understand the pathophysiology of POAG, we have been developing a mouse model of the disease. As a step in this development, we have investigated the expression pattern of Myoc transcripts in embryonic and adult mouse tissue using Northern blot and in situ hybridization analyses. Myoc transcripts were found in high levels in adult eye, heart, brain, skeletal muscle and testis and to a lesser extent in lung and kidney. They were also present, albeit in very low amounts, during mouse embryogenesis. We present new evidence using in situ hybridization analysis that Myoc transcripts were present in widespread regions of the adult brain including the ependymal lining of the third and fourth ventricles, in the choroid plexus, the zonal layer of the junction of the inferior and superior colliculi, the neurons of the habenula, the piriform cortex, the median pre-optic nucleus of the hypothalamus, the olfactory tubercle, and in the inferior olive. In a functional sense, Myoc expression in the ependyma and choroid plexus, two regions of the brain involved in cerebrospinal fluid synthesis and resorption, parallels Myoc expression in the ciliary body and trabecular meshwork of the anterior segment of the eye where aqueous humor synthesis and outflow occur. Copyright 1999 Elsevier Science B.V.

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Year:  1999        PMID: 10320784     DOI: 10.1016/s0169-328x(99)00085-6

Source DB:  PubMed          Journal:  Brain Res Mol Brain Res        ISSN: 0169-328X


  14 in total

1.  Interaction of myocilin with gamma-synuclein affects its secretion and aggregation.

Authors:  Irina Surgucheva; Bum-Chan Park; Beatrice Y J T Yue; Stanislav Tomarev; Andrei Surguchov
Journal:  Cell Mol Neurobiol       Date:  2005-09       Impact factor: 5.046

2.  Characterization of monoclonal antibodies against the glaucoma-associated protein myocilin.

Authors:  Mohamed-Karim Ezzat; Kyle G Howell; Cindy K Bahler; Thomas G Beito; Nils Loewen; Eric M Poeschla; Michael P Fautsch
Journal:  Exp Eye Res       Date:  2008-07-12       Impact factor: 3.467

Review 3.  Glaucoma-associated myocilin: a better understanding but much more to learn.

Authors:  Zachary T Resch; Michael P Fautsch
Journal:  Exp Eye Res       Date:  2008-08-29       Impact factor: 3.467

4.  Efficient in vivo doxycycline and cre recombinase-mediated inducible transgene activation in the murine trabecular meshwork.

Authors:  Pu Liu; Xueyao Fu; Randy L Johnson
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-02-23       Impact factor: 4.799

5.  Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.

Authors:  Budd A Tucker; Todd E Scheetz; Robert F Mullins; Adam P DeLuca; Jeremy M Hoffmann; Rebecca M Johnston; Samuel G Jacobson; Val C Sheffield; Edwin M Stone
Journal:  Proc Natl Acad Sci U S A       Date:  2011-08-08       Impact factor: 11.205

6.  Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.

Authors:  Darryl Y Nishimura; Melissa Fath; Robert F Mullins; Charles Searby; Michael Andrews; Roger Davis; Jeaneen L Andorf; Kirk Mykytyn; Ruth E Swiderski; Baoli Yang; Rivka Carmi; Edwin M Stone; Val C Sheffield
Journal:  Proc Natl Acad Sci U S A       Date:  2004-11-11       Impact factor: 11.205

7.  Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function.

Authors:  B S Kim; O V Savinova; M V Reedy; J Martin; Y Lun; L Gan; R S Smith; S I Tomarev; S W John; R L Johnson
Journal:  Mol Cell Biol       Date:  2001-11       Impact factor: 4.272

8.  A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

Authors:  Roger E Davis; Ruth E Swiderski; Kamal Rahmouni; Darryl Y Nishimura; Robert F Mullins; Khristofor Agassandian; Alisdair R Philp; Charles C Searby; Michael P Andrews; Stewart Thompson; Christopher J Berry; Daniel R Thedens; Baoli Yang; Robert M Weiss; Martin D Cassell; Edwin M Stone; Val C Sheffield
Journal:  Proc Natl Acad Sci U S A       Date:  2007-11-21       Impact factor: 11.205

9.  Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.

Authors:  Kirk Mykytyn; Robert F Mullins; Michael Andrews; Annie P Chiang; Ruth E Swiderski; Baoli Yang; Terry Braun; Thomas Casavant; Edwin M Stone; Val C Sheffield
Journal:  Proc Natl Acad Sci U S A       Date:  2004-06-01       Impact factor: 11.205

10.  The expression of myocilin during murine eye development.

Authors:  Carmen Knaupp; Cassandra Flügel-Koch; Andreas Goldwich; Andreas Ohlmann; Ernst R Tamm
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2004-01-29       Impact factor: 3.117

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