Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (34)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Chevillard, C.
Right arrow Articles by Fontes, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Chevillard, C.
Right arrow Articles by Fontes, M.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1993 Oxford University Press

RESEARCH-ARTICLE

Relationship between Charcot - Marie-Tooth 1A and Smith - Magenis regions. snU3 may be a candidate gene for the Smith - Magenis syndrome

Christophe Chevillard, Denis Le Paslier1, Edith Passage, Pierre Ougen1, Alain Billault1, Sylvie Boyer, Sylvie Mazan2, Jean Pierre Bachellerie2, Alain Vignal3, Daniel Cohen1 and Michel Fontes*

U242 BP 24, 13351 Marseile Cedex 5 1CEPH 27 rue J. Dodu 75010 Paris 2UPR 9006 118 route de Narbonne, 31062 Toubuse 3Genethon 1 rue de I'Internationale, 91000 Evry, France

* To whom correspondence should be addressed

Received March 10, 1993; Revised June 2, 1993; Accepted June 2, 1993

The juxtacentromeric region of the human chromosome 17 short arm (17p11.2-p12) contains genes Involved in the Charcot - Marie - Tooth type 1A disease (CMT1A) and the Smith-Magenis syndrome (SMS). CMT1A Is associated with a duplication of a short segment whereas SMS is linked to microdeletions, extending toward the centromere. We describe the construction and analysis of a 5 Mb YAC contig spanning the CMT1A duplicated segment and the distal part of four SMS microdeletions. We concluded that the YAC contig contains about 1Mb of genomic DNA which is deleted in the four SMS patients analysed. Moreover two YACs contain both STS deleted in SMS (U3) and STS duplicated in CMT1A (5H5), but the proximal breakpoint associated with the CMT1A duplication is not the same as the distal SMS breakpoint we studied. Finally we located five new STS In SMS deletion. Two of them, a microsatellite (D17S805(23)) and the gene coding for small nuclear RNA U3, have been localized In the contig we described. We may also note that snU3 Is the first expressed sequence localized In an SMS deletion so far. The possible participation of this gene in the SMS phenotype is discussed.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Genome ResHome page
W. Bi, J. Yan, P. Stankiewicz, S.-S. Park, K. Walz, C. F. Boerkoel, L. Potocki, L. G. Shaffer, K. Devriendt, M. J.M. Nowaczyk, et al.
Genes in a Refined Smith-Magenis Syndrome Critical Deletion Interval on Chromosome 17p11.2 and the Syntenic Region of the Mouse
Genome Res., May 1, 2002; 12(5): 713 - 728.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.