Non-ubiquitous expression of core spliceosomal protein SmB/B' in chick and mouse embryos.
SNRPB
SmB/B′
cerebro-costo-mandibular syndrome
chick
embryo
mouse
Journal
Developmental dynamics : an official publication of the American Association of Anatomists
ISSN: 1097-0177
Titre abrégé: Dev Dyn
Pays: United States
ID NLM: 9201927
Informations de publication
Date de publication:
02 2023
02 2023
Historique:
revised:
02
08
2022
received:
27
06
2022
accepted:
25
08
2022
pubmed:
5
9
2022
medline:
15
2
2023
entrez:
4
9
2022
Statut:
ppublish
Résumé
Although splicing is an integral part of the expression of many genes in our body, genetic syndromes with spliceosomal defects affect only specific tissues. To help understand the mechanism, we investigated the expression pattern of a core protein of the major spliceosome, SmB/B' (Small Nuclear Ribonucleoprotein Polypeptides B/B'), which is encoded by SNRPB. Loss-of-function mutations of SNRPB in humans cause cerebro-costo-mandibular syndrome (CCMS) characterized by rib gaps, micrognathia, cleft palate, and scoliosis. Our expression analysis focused on the affected structures as well as non-affected tissues, using chick and mouse embryos as model animals. Embryos at young stages (gastrula) showed ubiquitous expression of SmB/B'. However, the level and pattern of expression became tissue-specific as differentiation proceeded. The regions relating to CCMS phenotypes such as cartilages of ribs and vertebrae and palatal mesenchyme express SmB/B' in the nucleus sporadically. However, cartilages that are not affected in CCMS also showed similar expressions. Another spliceosomal gene, SNRNP200, which mutations cause retinitis pigmentosa, was also prominently expressed in cartilages in addition to the retina. The expression of SmB/B' is spatiotemporally regulated during embryogenesis despite the ubiquitous requirement of the spliceosome, however, the expression pattern is not strictly correlated with the phenotype presentation.
Sections du résumé
BACKGROUND
Although splicing is an integral part of the expression of many genes in our body, genetic syndromes with spliceosomal defects affect only specific tissues. To help understand the mechanism, we investigated the expression pattern of a core protein of the major spliceosome, SmB/B' (Small Nuclear Ribonucleoprotein Polypeptides B/B'), which is encoded by SNRPB. Loss-of-function mutations of SNRPB in humans cause cerebro-costo-mandibular syndrome (CCMS) characterized by rib gaps, micrognathia, cleft palate, and scoliosis. Our expression analysis focused on the affected structures as well as non-affected tissues, using chick and mouse embryos as model animals.
RESULTS
Embryos at young stages (gastrula) showed ubiquitous expression of SmB/B'. However, the level and pattern of expression became tissue-specific as differentiation proceeded. The regions relating to CCMS phenotypes such as cartilages of ribs and vertebrae and palatal mesenchyme express SmB/B' in the nucleus sporadically. However, cartilages that are not affected in CCMS also showed similar expressions. Another spliceosomal gene, SNRNP200, which mutations cause retinitis pigmentosa, was also prominently expressed in cartilages in addition to the retina.
CONCLUSION
The expression of SmB/B' is spatiotemporally regulated during embryogenesis despite the ubiquitous requirement of the spliceosome, however, the expression pattern is not strictly correlated with the phenotype presentation.
Identifiants
pubmed: 36058892
doi: 10.1002/dvdy.537
pmc: PMC10087933
doi:
Substances chimiques
snRNP Core Proteins
0
Ribonucleoproteins, Small Nuclear
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
276-293Informations de copyright
© 2022 The Authors. Developmental Dynamics published by Wiley Periodicals LLC on behalf of American Association for Anatomy.
Références
J Cell Biol. 1999 Dec 13;147(6):1181-94
pubmed: 10601333
Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1036-43
pubmed: 19710410
BMC Dev Biol. 2010 Feb 16;10:16
pubmed: 20158901
Trends Cell Biol. 2004 May;14(5):226-32
pubmed: 15130578
Semin Cell Dev Biol. 2018 Jul;79:92-102
pubmed: 29037818
Cold Spring Harb Perspect Biol. 2011 Jul 01;3(7):
pubmed: 21441581
RNA Biol. 2017 May 4;14(5):544-552
pubmed: 27302685
Clin Genet. 2015 Nov;88(5):405-15
pubmed: 25865758
Trends Mol Med. 2012 Aug;18(8):472-82
pubmed: 22819011
Cell Div. 2007 Jun 12;2:18
pubmed: 17565698
Nat Genet. 2008 Dec;40(12):1413-5
pubmed: 18978789
PLoS One. 2012;7(9):e45464
pubmed: 23029027
EMBO Rep. 2015 Dec;16(12):1640-55
pubmed: 26566663
Cell Cycle. 2015;14(12):1873-83
pubmed: 25892155
PLoS One. 2020 Sep 11;15(9):e0238225
pubmed: 32915841
Mol Cell Biol. 1990 Dec;10(12):6817-20
pubmed: 2174118
Mol Cell Biol. 2008 Jul;28(13):4320-30
pubmed: 18443041
J Cell Sci. 2003 May 15;116(Pt 10):2039-50
pubmed: 12679382
J Morphol. 1951 Jan;88(1):49-92
pubmed: 24539719
Hum Mutat. 2015 Feb;36(2):187-90
pubmed: 25504470
EMBO J. 1989 Dec 1;8(12):3853-60
pubmed: 2531083
PLoS Comput Biol. 2007 Oct;3(10):2019-31
pubmed: 17967051
Genes Dev. 2011 Feb 15;25(4):373-84
pubmed: 21325135
Cell Cycle. 2018;17(21-22):2496-2516
pubmed: 30421640
Proc Natl Acad Sci U S A. 1988 Jul;85(14):5296-300
pubmed: 2969109
Trends Genet. 2012 Apr;28(4):147-54
pubmed: 22397991
Am J Hum Genet. 2009 Nov;85(5):617-27
pubmed: 19878916
J Exp Bot. 2015 Dec;66(22):7019-30
pubmed: 26320237
Cell. 1998 Jun 12;93(6):1043-53
pubmed: 9635433
Am J Med Genet A. 2016 May;170A(5):1115-26
pubmed: 26971886
Wiley Interdiscip Rev RNA. 2013 Jan-Feb;4(1):61-76
pubmed: 23074130
Dev Biol. 2010 Nov 1;347(1):40-52
pubmed: 20707994
Hum Mol Genet. 2005 Dec 1;14(23):3629-42
pubmed: 16236758
Development. 2016 May 15;143(10):1742-52
pubmed: 27190038
Nucleic Acids Res. 1999 Dec 1;27(23):4577-84
pubmed: 10556313
Hum Mol Genet. 2011 Jun 1;20(11):2116-30
pubmed: 21378395
J Exp Zool. 2001 Feb 15;289(3):153-61
pubmed: 11170011
J Anat. 2020 May;236(5):931-945
pubmed: 31884688
Genome Res. 2005 Jan;15(1):174-83
pubmed: 15590942
Arthritis Res. 2002;4(2):94-106
pubmed: 11879545
Oncogene. 2004 Jun 24;23(29):4984-92
pubmed: 15122344
J Cell Biol. 1994 Jul;126(1):11-23
pubmed: 8027171
Dev Dyn. 2023 Feb;252(2):276-293
pubmed: 36058892
Mol Cell Biol. 2007 Jul;27(13):4737-44
pubmed: 17470552
J Bone Miner Res. 1987 Jun;2(3):231-8
pubmed: 2843003
J Biol Chem. 2009 Aug 21;284(34):23159-68
pubmed: 19553665
Nat Commun. 2014 Jul 22;5:4483
pubmed: 25047197
Nat Rev Mol Cell Biol. 2005 May;6(5):386-98
pubmed: 15956978
Proc Natl Acad Sci U S A. 2012 Jan 3;109(1):197-202
pubmed: 22184239
Nat Genet. 1998 May;19(1):25-31
pubmed: 9590284
Exp Cell Res. 1985 Jul;159(1):63-79
pubmed: 3161749
Comp Biochem Physiol C Toxicol Pharmacol. 2015 Dec;178:8-15
pubmed: 26475527