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.
%0 Journal Article
%1 Gessler.1989b
%A Gessler, M.
%A Simola, K. O.
%A Bruns, G. A.
%D 1989
%J Science
%K *Chromosome *Chromosomes;Human;Pair *Cloning;Molecular *Translocation;Genetic 11 4 Abnormalities Acid Chromosome Chromosomes;Pair DNA Deletion Diseases/congenital/*genetics Enzymes Eye Humans Hybridization Iris/*abnormalities Mapping Mental Nucleic Phenotype Probes Restriction Retardation/genetics Syndrome Tumor/genetics Urogenital Wilms
%N 4912
%P 1575--1578
%T Cloning of breakpoints of a chromosome translocation identifies the AN2 locus
%V 244
%X 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.
@article{Gessler.1989b,
abstract = {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.},
added-at = {2013-01-29T13:47:26.000+0100},
author = {Gessler, M. and Simola, K. O. and Bruns, G. A.},
biburl = {https://www.bibsonomy.org/bibtex/250cfbbba4155f6973642c94dcc8a93b1/ebch},
interhash = {ccb25fd4582b0780a61e26eab3458c1a},
intrahash = {50cfbbba4155f6973642c94dcc8a93b1},
journal = {Science},
keywords = {*Chromosome *Chromosomes;Human;Pair *Cloning;Molecular *Translocation;Genetic 11 4 Abnormalities Acid Chromosome Chromosomes;Pair DNA Deletion Diseases/congenital/*genetics Enzymes Eye Humans Hybridization Iris/*abnormalities Mapping Mental Nucleic Phenotype Probes Restriction Retardation/genetics Syndrome Tumor/genetics Urogenital Wilms},
number = 4912,
pages = {1575--1578},
timestamp = {2013-01-29T13:47:44.000+0100},
title = {Cloning of breakpoints of a chromosome translocation identifies the AN2 locus},
volume = 244,
year = 1989
}