NDLI: The genomic organization of human dystrobrevin

Please wait, while we are loading the content...

Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis

Rediscovery of the case described by Alois Alzheimer in 1911: historical, histological and molecular genetic analysis

The genomic organization of human dystrobrevin

Content Provider	Springer Nature Link
Author	Sadoulet Puccio, Hélène M. Feener, Chris A. Schaid, Daniel J. Thibodeau, Stephen N. Michels, Virginia V. Kunkel, Louis M.
Copyright Year	1997
Abstract	Dystrophin-related and dystrophin-associated proteins (DAPs) are thought to play an important role in the stability and maintenance of the plasma membrane during muscle contraction and relaxation. Studies conducted on the electric organg of Torpedo californica have shown that some of the DAPs are also involved in the formation and maintenance of neuromuscular junctions (NMJs). In addition, dystrophin and several DAPs have been shown to be the primary genetic defect in a number of phenotypically similar muscular dystrophies. We previously reported the identification and characterization of human dystrobrevin, a protein which is unique in being both homologous to dystrophin and a dystrophin-associated protein. Here we describe the genomic organization of the human dystrobrevin gene. It is encoded by 23 exons spanning at least 180 kb of chromosome 18q12. Three different C-termini of dystrobrevin are generated by the mutually exclusive mRNA splicing of three exons. Two alternatively spliced exons (exons 11A and 12) are utilized exclusively in striated muscles. A comparison between the genomic organization of dystrophin and human dystrobrevin shows that the two genes have significant similarities in their genomic structure, implying an ancestral or evolutionary relationship. Based on intronic sequence, a primer set was designed to specifically amplify each exon of dystrobrevin to screen for mutations by SSCP in patients with neuromuscular diseases for which dystrobrevin could be a candidate.
Starting Page	37
Ending Page	42
Page Count	6
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	1
Issue Number	1
Language	English
Publisher	Springer-Verlag
Publisher Date	1997-05-01
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Genomic organization and refined mapping of the mouse β-dystrobrevin gene

Dystrobrevin- and dystrophin-like mutants display similar phenotypes in the nematode Caenorhabditis elegans

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease

Structural genomic variation in ischemic stroke

The C15orf2 gene in the Prader–Willi syndrome region is subject to genomic imprinting and positive selection

The human glia maturation factor-gamma gene: genomic structure and mutation analysis in gliomas with chromosome 19q loss

Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene

Genomic organization and chromosomal localization of the human casein gene family

The genomic organization of human dystrobrevin

Similar Documents

Genomic organization and refined mapping of the mouse β-dystrobrevin gene

Dystrobrevin- and dystrophin-like mutants display similar phenotypes in the nematode Caenorhabditis elegans

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts

Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease

Structural genomic variation in ischemic stroke

The C15orf2 gene in the Prader–Willi syndrome region is subject to genomic imprinting and positive selection

The human glia maturation factor-gamma gene: genomic structure and mutation analysis in gliomas with chromosome 19q loss

Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene

Genomic organization and chromosomal localization of the human casein gene family

The genomic organization of human dystrobrevin