ArticleMammalian genome : official journal of the International Mammalian Genome Society2010
Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 39 citations in OpenAlex.
- The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.FEBS letters · 2026Review
- Decoding ATXN2 Phosphocode: Structural Insights and Therapeutic Opportunities in Disease.The protein journal · 2025Review
- Modelling Lowe syndrome and Dent-2 disease using zebrafish.Frontiers in cell and developmental biology · 2025Review
- Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- Challenges and opportunities for discovering the biology of rare genetic diseases of the brain.Journal of biosciences · 2024Review
- Review
- The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.Journal of developmental biology · 2022Review
- Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.Journal of medical genetics · 2022Article
- Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.Human molecular genetics · 2021Article
- Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome.Clinical and experimental nephrology · 2020Article
- Optogenetic stimulation of phosphoinositides reveals a critical role of primary cilia in eye pressure regulation.Science advances · 2020Article
- Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.Journal of the American Society of Nephrology : JASN · 2020Article
- OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.Human molecular genetics · 2019Article
- Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.PLoS genetics · 2019Article
- Phosphoinositides in the kidney.Journal of lipid research · 2019Review
- Loss of OCRL increases ciliary PI(4,5)PJournal of cell science · 2017Article
- The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.Nature reviews. Nephrology · 2017Review
- Kidney Tubular Ablation ofJournal of the American Society of Nephrology : JASN · 2017Article
- The oculocerebrorenal syndrome of Lowe: an update.Pediatric nephrology (Berlin, Germany) · 2016Review
- The cellular and physiological functions of the Lowe syndrome protein OCRL1.Traffic (Copenhagen, Denmark) · 2014Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
The oculocerebrorenal syndrome of Lowe (OCRL; MIM #309000) is an X-linked human disorder characterized by congenital cataracts, mental retardation, and renal proximal tubular dysfunction caused by loss-of-function mutations in the OCRL gene that encodes Ocrl, a type II phosphatidylinositol bisphosphate (PtdIns4,5P(2)) 5-phosphatase. In contrast, mice with complete loss-of-function of the highly homologous ortholog Ocrl have no detectable renal, ophthalmological, or central nervous system abnormalities. We inferred that the disparate phenotype between Ocrl-deficient humans and mice was likely due to differences in how the two species compensate for loss of the Ocrl enzyme. We therefore turned our attention to Inpp5b, another type II PtdIns4,5P(2) 5-phosphatase encoded by Inpp5b in mice and INPP5B in humans, as potential compensating genes in the two species, because Inpp5b/INPP5B are the most highly conserved paralogs to Ocrl/OCRL in the respective genomes of both species and Inpp5b demonstrates functional overlap with Ocrl in mice in vivo. We used in silico sequence analysis, reverse-transcription PCR, quantitative PCR, and transient transfection assays of promoter function to define splice-site usage and the function of an internal promoter in mouse Inpp5b versus human INPP5B. We found mouse Inpp5b and human INPP5B differ in their transcription, splicing, and primary amino acid sequence. These observations form the foundation for analyzing the functional basis for the difference in how Inpp5b and INPP5B compensate for loss of Ocrl function and, by providing insight into the cellular roles of Ocrl and Inpp5b, aid in the development of a model system in which to study Lowe syndrome.
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