RGD Reference Report - Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

Authors: Boerkoel, CF  Takashima, H  John, J  Yan, J  Stankiewicz, P  Rosenbarker, L  Andre, JL  Bogdanovic, R  Burguet, A  Cockfield, S  Cordeiro, I  Frund, S  Illies, F  Joseph, M  Kaitila, I  Lama, G  Loirat, C  McLeod, DR  Milford, DV  Petty, EM  Rodrigo, F  Saraiva, JM  Schmidt, B  Smith, GC  Spranger, J  Stein, A  Thiele, H  Tizard, J  Weksberg, R  Lupski, JR  Stockton, DW 
Citation: Boerkoel CF, etal., Nat Genet. 2002 Feb;30(2):215-20. Epub 2002 Jan 22.
RGD ID: 1599053
Pubmed: PMID:11799392   (View Abstract at PubMed)
DOI: DOI:10.1038/ng821   (Journal Full-text)

Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Using genome-wide linkage mapping and a positional candidate approach, we determined that mutations in SMARCAL1 (SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), are responsible for SIOD. Through analysis of data from persons with SIOD in 26 unrelated families, we observed that affected individuals from 13 of 23 families with severe disease had two alleles with nonsense, frameshift or splicing mutations, whereas affected individuals from 3 of 3 families with milder disease had a missense mutation on each allele. These observations indicate that some missense mutations allow retention of partial SMARCAL1 function and thus cause milder disease.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
SMARCAL1HumanSchimke immuno-osseous dysplasia  IAGP DNA:mutations:multiple (human)RGD 
Smarcal1RatSchimke immuno-osseous dysplasia  ISOSMARCAL1 (Homo sapiens)DNA:mutations:multiple (human)RGD 
Smarcal1MouseSchimke immuno-osseous dysplasia  ISOSMARCAL1 (Homo sapiens)DNA:mutations:multiple (human)RGD 


Genes (Rattus norvegicus)
Smarcal1  (SNF2 related chromatin remodeling annealing helicase 1)

Genes (Mus musculus)
Smarcal1  (SNF2 related chromatin remodeling ATPase like 1)

Genes (Homo sapiens)
SMARCAL1  (SNF2 related chromatin remodeling annealing helicase 1)