Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Science 30 June 1989:
Vol. 244. no. 4912, pp. 1575 - 1578
DOI: 10.1126/science.2544995
Prev | Table of Contents | Next

Articles

Science, Vol 244, Issue 4912, 1575-1578
Copyright © 1989 by American Association for the Advancement of Science

articles

Cloning of breakpoints of a chromosome translocation identifies the AN2 locus

M Gessler, KO Simola, and GA Bruns

Genetics Division, Children's Hospital, Boston, MA.

Chromosome translocations involving 11p13 have been associated with familial aniridia in two kindreds highlighting the chromosomal localization of the AN2 locus. This locus is also part of the WAGR complex (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation). In one kindred, the translocation is associated with a deletion, and probes for this region were used to identify and clone the breakpoints of the translocation in the second kindred. Comparison of phage restriction maps exclude the presence of any sizable deletion in this case. Sequences at the chromosome 11 breakpoint are conserved in multiple species, suggesting that the translocation falls within the AN2 gene.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.
D. A. Kleinjan, A. Seawright, A. Schedl, R. A Quinlan, S. Danes, and V. van Heyningen (2001)
Hum. Mol. Genet. 10, 2049-2059
   Abstract »    Full Text »    PDF »
Embryonic Lethality and Tumorigenesis Caused by Segmental Aneuploidy on Mouse Chromosome 11.
P. Liu, H. Zhang, A. McLellan, H. Vogel, and A. Bradley (1998)
Genetics 150, 1155-1168
   Abstract »    Full Text »
A mouse model of the aniridia-Wilms tumor deletion syndrome.
T Glaser, J Lane, and D Housman (1990)
Science 250, 823-827
   Abstract »    PDF »
3' deletions cause aniridia by preventing PAX6 gene expression.
J. D. Lauderdale, J. S. Wilensky, E. R. Oliver, D. S. Walton, and T. Glaser (2000)
PNAS 97, 13755-13759
   Abstract »    Full Text »    PDF »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)