Reference Report

Reference
Citation	Baradaran-Heravi, A., Cho, K.S., Tolhuis, B., Sanyal, M., Morozova, O., Morimoto, M., Elizondo, L.I., Bridgewater, D., Lubieniecka, J., Beirnes, K., Myung, C., Leung, D., Fam, H.K., Choi, K., Huang, Y., Dionis, K.Y., Zonana, J., Keller, K., Stenzel, P., Mayfield, C., Lücke, T., Bokenkamp, A., Marra, M.A., van Lohuizen, M., Lewis, D.B., Shaw, C., Boerkoel, C.F. (2012). Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum. Mol. Genet. 21(11): 2572--2587. (Export to RIS)
FlyBase ID	FBrf0218299
Publication Type	Research paper
PubMed ID	22378147
PubMed Abstract	Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila and mouse models, we show that the proteins encoded by SMARCAL1 orthologs localize to transcriptionally active chromatin and modulate gene expression. We also show that, as found in SIOD patients, deficiency of the SMARCAL1 orthologs alone is insufficient to cause disease in fruit flies and mice, although such deficiency causes modest diffuse alterations in gene expression. Rather, disease manifests when SMARCAL1 deficiency interacts with genetic and environmental factors that further alter gene expression. We conclude that the SMARCAL1 annealing helicase buffers fluctuations in gene expression and that alterations in gene expression contribute to the penetrance of SIOD.
DOI	10.1093/hmg/dds083
Related Publication(s)
Recent Updates
Description	What does this section display? This section contains items that were added to this record for each release. It currently only tracks new links between this FlyBase report and other FlyBase data classes (e.g. genes, references, stocks) or controlled vocabulary terms (e.g. GO, anatomy terms). What does this section not display? This section does not currently display links that were removed or gene model changes.
Update Feed	Click the icon below to subscribe to this FlyBase record and receive updates automatically through your feed reader.
FB2013_03
FB2013_02
All updates	Click here to see a list of all updates to this record from FB2010_08 and on.
Associated Information
Comments
Associated Files
Other Information
Secondary IDs
Language of Publication	English
Additional Languages of Abstract
Also Published As
Parent Publication
Publication Type	Journal
Abbreviation	Hum. Mol. Genet.
Title	Human Molecular Genetics
Publication Year	1992-
ISBN/ISSN	0964-6906
Data from Reference
Alleles (12)
	Hsap\SMARCAL1^Scer\UAS.cBa Marcal1^del Marcal1^Scer\UAS.cBa Marcal1^{Scer\UAS.P\T.T:Ivir\HA1,T:Avic\GFP} Marcal1^{Scer\UAS.T:Ecol\dam} Marcal1^{Scer\UAS.T:Ivir\HA1,T:Avic\GFP} RpII215³ RpII215⁴ RpII215⁸ RpII215^K1 Scer\GAL4^Bx-MS1096 Scer\GAL4^tub.PU
Constructs (6)
	P{tub-GAL4.U} P{UAS-HA-GFP-Marcal1} P{UAS-Marcal1.B} P{UAS-N-Dam-Marcal1} P{UASp-HA-GFP-Marcal1} P{UAS-SMARCAL1.B}
Genes (111)
	Acf1 ball barr BEAF-32 Cap-G caz cdc2 Cdk7 Cdk8 Cdk9 Cul-4 CycA CycH CycT DnaJ-1 Dp dre4 Dref E2f e(y)1 Elongin-B Elongin-C Gcn5 glu grh hay His3 His4 Hsap\SMARCAL1 Hsf Hsp22 Hsp23 Hsp26 Hsp27 Hsp60 Hsp60B Hsp67Ba Hsp67Bb Hsp67Bc Hsp68 Hsp83 Inr-a ix JIL-1 kto Lam LamC lds Marcal1 MED6 MED15 MED17 MED18 MED20 MED23 MED24 MED28 mei-9 mei-P22 mei-S332 mei-W68 Mi-2 mia mod mod(mdg4) mus209 Nap1 nej Nipped-A Nipped-B ord pros pr-set7 RpII33 RpII140 RpII215 san Scer\GAL4 Sir2 skd Slbp SMC1 spt4 Spt5 Spt6 su(Hw) Su(Tpl) Su(var)3-4 Su(var)205 T:Avic\GFP T:Ecol\dam T:Ivir\HA1 Taf1 Taf2 Taf4 Taf5 Taf6 Taf10 Taf10b Taf12L TfIIA-L TfIIA-S TfIIB TfIIEα TfIIEβ TfIIFα TfIIFβ TfIIS Trf2 Trl trr
Insertions (2)
	P{GawB}Bx^MS1096 P{SUPor-P}Marcal1^KG09850
Natural transposons (1)
	P-element