The Reticulocalbin Gene Maps to the WAGR Region in Human and to the Small Eye Harwell Deletion in Mouse

Autor:	Catherine M. Abbott, Shelagh Boyle, J. Fantes, Muriel Lee, Andreas Schedl, Jill Kent, Martin B. Powell, Veronica van Heyningen, Wendy A. Bickmore, N. K. Rushmere
Rok vydání:	1997
Předmět:	Male Genes Wilms Tumor PAX6 Transcription Factor Biology medicine.disease_cause Polymerase Chain Reaction Wilms Tumor Mice Species Specificity Gene mapping Intellectual Disability Genetics medicine Animals Humans Paired Box Transcription Factors Abnormalities Multiple Eye Abnormalities Eye Proteins Aniridia Gene In Situ Hybridization Fluorescence DNA Primers Homeodomain Proteins Mutation Base Sequence Gene map Chromosomes Human Pair 11 Calcium-Binding Proteins Homozygote Chromosome Mapping Chromosome Syndrome medicine.disease Molecular biology Kidney Neoplasms DNA-Binding Proteins Repressor Proteins Urogenital Abnormalities PAX6 Reticulocalbin 1 Gene Deletion
Zdroj:	Genomics. 42:260-267
ISSN:	0888-7543
DOI:	10.1006/geno.1997.4706
Popis:	We describe the localization of the gene encoding reticulocalbin, a Ca 2+ -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 ( Sey H ) mutation. Loss of the reticulocalbin gene could contribute to the early lethality of Sey H and Sey Dey homozygotes.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::825667ff498fd2e650e7697c6c5db8cb https://doi.org/10.1006/geno.1997.4706 Zobrazit plný text záznamu Full Text from ScienceDirect