title: The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse.
abstract: We describe the localization of the gene encoding reticulocalbin, a Ca2+-binding protein of the endoplasmic reticulum, on human chromosome 11p13 midway between the WT1 and the PAX6 genes and show that it is hemizygously deleted in WAGR individuals. The mouse reticulocalbin gene is also shown to map to the region of conserved synteny on mouse chromosome 2 and to be deleted in the Small eye Harwell (SeyH) mutation. Loss of the reticulocalbin gene could contribute to the early lethality of SeyH and SeyDey homozygotes.
authors.affiliation: MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom.
authors.forename: J
authors.initials: J
authors.lastname: Kent
authors.forename: M
authors.initials: M
authors.lastname: Lee
authors.forename: A
authors.initials: A
authors.lastname: Schedl
authors.forename: S
authors.initials: S
authors.lastname: Boyle
authors.forename: J
authors.initials: J
authors.lastname: Fantes
authors.forename: M
authors.initials: M
authors.lastname: Powell
authors.forename: N
authors.initials: N
authors.lastname: Rushmere
authors.forename: C
authors.initials: C
authors.lastname: Abbott
authors.forename: V
authors.initials: V
authors.lastname: van Heyningen
authors.forename: W A
authors.initials: WA
authors.lastname: Bickmore
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000818:Animals; D015783:Aniridia / Q000235:genetics; D001483:Base Sequence; D002135:Calcium-Binding Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D005136:Eye Proteins; D017353:Gene Deletion; D016162:Genes, Wilms Tumor; D018398:Homeodomain Proteins; D006720:Homozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007680:Kidney Neoplasms / Q000235:genetics; D008297:Male; D051379:Mice; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D016133:Polymerase Chain Reaction; D012097:Repressor Proteins; D013045:Species Specificity; D013577:Syndrome; D014564:Urogenital Abnormalities; D009396:Wilms Tumor / Q000235:genetics
chemical_list: D002135:Calcium-Binding Proteins; D017931:DNA Primers; D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; C000605732:Pax6 protein, mouse; D012097:Repressor Proteins; C078865:reticulocalbin