Genome Research

Home Help [Feedback] [For Subscribers] [Archive] [Search] [Contents]
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
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 Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Tunnacliffe, A.
Right arrow Articles by James, M. R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Tunnacliffe, A.
Right arrow Articles by James, M. R.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati  
What's this?

Vol. 9, Issue 1, 44-52, January 1999

LETTER
Localization of Jacobsen Syndrome Breakpoints on a 40-Mb Physical Map of Distal Chromosome 11q

Alan Tunnacliffe,1,6,7,8 Christopher Jones,2,6 Denis Le Paslier,3 Roger Todd,2 Dora Cherif,3 Michelle Birdsall,4 Louise Devenish,4 Cherine Yousry,5 Finbarr E. Cotter,2 and Michael R. James3,4,5,8

1 Anglia Research Foundation, Anglia Polytechnic University, Cambridge CB1 1PT, UK; 2 Institute of Child Health, London WC1N 1EH, UK; 3 Centre d'Étude du Polymorphism Humain (CEPH), Paris 75011, France; 4 Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; 5 Institut National de la Santé et de la Recherche Médicale (INSERM) U358, Hôpital St. Louis, Paris 75011, France

Jacobsen syndrome is a haploinsufficiency disorder caused, most frequently by terminal deletion of part of the long arm of chromosome 11, with breakpoints in 11q23.3-11q24.2. Inheritance of an expanded p(CCG)n trinucleotide repeat at the folate-sensitive fragile site FRA11B has been implicated in the generation of the chromosome breakpoint in several Jacobsen syndrome patients. The majority of such breakpoints, however, map distal to this fragile site and are not linked with its expression. To characterize these distal breakpoints and ultimately to further investigate the mechanisms of chromosome breakage, a 40-Mb YAC contig covering the distal long arm of chromosome 11 was assembled. The utility of the YAC contig was demonstrated in three ways: (1) by rapidly mapping the breakpoints from two new Jacobsen syndrome patients using FISH; (2) by demonstrating conversion to high resolution PAC contigs after direct screening of PAC library filters with a YAC clone containing a Jacobsen syndrome breakpoint; and (3) by placing 23 Jacobsen syndrome breakpoints on the physical map. This analysis has suggested the existence of at least two new Jacobsen syndrome breakpoint cluster regions in distal chromosome 11.

6   These authors contributed equally to this work.
7   Present address: Institute of Biotechnology, University of Cambridge, Cambridge CB2 1QT, UK.
8   Corresponding authors.

9:44-52 ©1999 by Cold Spring Harbor Laboratory Press  ISSN 1088-9051/99 $5.00
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?


This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
M Syrrou and J-P Fryns
Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay
J. Med. Genet., September 1, 2001; 38(9): 621 - 624.
[Full Text] [PDF]

Home page
 CirculationHome page
C. J. Vaughan, M. Casey, J. He, M. Veugelers, K. Henderson, D. Guo, R. Campagna, M. J. Roman, D. M. Milewicz, R. B. Devereux, et al.
Identification of a Chromosome 11q23.2-q24 Locus for Familial Aortic Aneurysm Disease, a Genetically Heterogeneous Disorder
Circulation, May 22, 2001; 103(20): 2469 - 2475.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
M. D. Wilson, C. Riemer, D. W. Martindale, P. Schnupf, A. P. Boright, T. L. Cheung, D. M. Hardy, S. Schwartz, S. W. Scherer, L.-C. Tsui, et al.
Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5
Nucleic Acids Res., March 15, 2001; 29(6): 1352 - 1365.
[Abstract] [Full Text] [PDF]

Home page
 BloodHome page
R. L. Auer, C. Jones, R. A. Mullenbach, D. Syndercombe-Court, D. W. Milligan, C. D. Fegan, and F. E. Cotter
Role for CCG-trinucleotide repeats in the pathogenesis of chronic lymphocytic leukemia
Blood, January 15, 2001; 97(2): 509 - 515.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
C. Jones, R. Mullenbach, P. Grossfeld, R. Auer, R. Favier, K. Chien, M. James, A. Tunnacliffe, and F. Cotter
Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage
Hum. Mol. Genet., May 1, 2000; 9(8): 1201 - 1208.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Pathol.Home page
A. Rosenwald, G. Ott, S. Stilgenbauer, J. Kalla, M. Bredt, T. Katzenberger, A. Greiner, M. M. Ott, B. Gawin, H. Dohner, et al.
Exclusive Detection of the t(11;18)(q21;q21) in Extranodal Marginal Zone B Cell Lymphomas (MZBL) of MALT Type in Contrast to other MZBL and Extranodal Large B Cell Lymphomas
Am. J. Pathol., December 1, 1999; 155(6): 1817 - 1821.
[Abstract] [Full Text] [PDF]


Home Help [Feedback] [For Subscribers] [Archive] [Search] [Contents]
Genes Dev. Learn. Mem.
Protein Science RNA Genome Res.