Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region
dc.contributor.author | Ton, Carl C. T. | en_US |
dc.contributor.author | Hirvonen, Harri | en_US |
dc.contributor.author | Miwa, Hiroshi | en_US |
dc.contributor.author | Weil, Michael M. | en_US |
dc.contributor.author | Monaghan, Paula | en_US |
dc.contributor.author | Jordan, Tim | en_US |
dc.contributor.author | van Heyningen, Veronica | en_US |
dc.contributor.author | Hastie, Nicholas D. | en_US |
dc.contributor.author | Meijers-Heijboer, Hanne | en_US |
dc.contributor.author | Drechsler, Matthias | en_US |
dc.date.accessioned | 2006-05-10T15:40:06Z | |
dc.date.available | 2006-05-10T15:40:06Z | |
dc.date.issued | 1991-12-20 | en_US |
dc.identifier.citation | Ton, Carl C. T., Hirvonen, Harri, Miwa, Hiroshi, Weil, Michael M., Monaghan, Paula, Jordan, Tim, van Heyningen, Veronica, Hastie, Nicholas D., Meijers-Heijboer, Hanne, Drechsler, Matthias (1991/12/20)."Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region." Cell 67(6): 1059-1074. <http://hdl.handle.net/2027.42/28976> | en_US |
dc.identifier.uri | http://www.sciencedirect.com/science/article/B6WSN-4C59BNC-7/2/b82750a0ff05b87965bf1b400bcd9186 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/28976 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=1684738&dopt=citation | en_US |
dc.description.abstract | Based on the map location of the aniridia (AN) locus in human chromosomal band 11p13, we have cloned a candidate AN cDNA (D11S812E) that is completely or partially deleted in two patients with AN. The <70 kb smallest region of overlap between the two deletions encompasses the 3' coding region of the cDNA. This cDNA, which spans over 50 kb of genomic DNA, detects a 2.7 kb message specifically within all tissues affected in AN. The predicted polypeptide product possesses a paired domain, a homeodomain, and a serine/threonine-rich carboxy-terminal domain, structural motifs characteristic of certain transcription factors. The concordance between expression and pathology, map location, structure, and predicted function argues that the cDNA corresponds to the AN gene. | en_US |
dc.format.extent | 90349 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.extent | 5917708 bytes | |
dc.format.mimetype | text/plain | |
dc.format.mimetype | text/plain | |
dc.format.mimetype | application/pdf | |
dc.language.iso | en_US | en_US |
dc.publisher | Elsevier | en_US |
dc.title | Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationother | Department of Biochemistry and Molecular Biology University of Texas M. D. Anderson Cancer Center, Houston, Texas 77030, USA | en_US |
dc.contributor.affiliationother | Department of Experimental Pediatrics University of Texas M. D. Anderson Cancer Center, Houston, Texas 77030, USA | en_US |
dc.contributor.affiliationother | Department of Biochemistry and Molecular Biology University of Texas M. D. Anderson Cancer Center, Houston, Texas 77030, USA | en_US |
dc.contributor.affiliationother | Department of Biochemistry and Molecular Biology University of Texas M. D. Anderson Cancer Center, Houston, Texas 77030, USA | en_US |
dc.contributor.affiliationother | Department of Medical Biochemistry University of Turku, Turku SF-20520, Finland | en_US |
dc.contributor.affiliationother | Department of Medical Biochemistry University of Turku, Turku SF-20520, Finland | en_US |
dc.contributor.affiliationother | Department of Medical Biochemistry University of Turku, Turku SF-20520, Finland | en_US |
dc.contributor.affiliationother | Department of Medical Biochemistry University of Turku, Turku SF-20520, Finland | en_US |
dc.contributor.affiliationother | Institut für Humangenetik und Anthropologie Ruprecht-Karls Universität 6900, Heidelberg 1, Federal Republic of Germany | en_US |
dc.contributor.affiliationother | Institut für Humangenetik und Anthropologie Ruprecht-Karls Universität 6900, Heidelberg 1, Federal Republic of Germany | en_US |
dc.identifier.pmid | 1684738 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/28976/3/0000003.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1016/0092-8674(91)90284-6 | en_US |
dc.identifier.source | Cell | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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