Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family
- PMID: 11153914
- DOI: 10.1007/s004390000414
Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family
Abstract
The genomic structure of the filamin gene paralogues FLNB and FLNC was determined and related to FLNA. FLNB consists of 45 exons and 44 introns and spans approximately 80 kb of genomic DNA. FLNC is divided into 48 exons and 47 introns and covers approximately 29.5 kb of genomic DNA. A previously unknown intron was found in FLNA. The comparison of all three filamin gene paralogues revealed a highly conserved exon-intron structure with significant differences in the exons 32 of all paralogues encoding the hinge I region, as well as the insertion of a novel exon 40A in FLNC only. Gene organization does not correlate with the domain structures of the respective proteins. To improve candidate gene cloning approaches, FLNB was precisely mapped at 3p14 in an interval of 0.81 cM between WI3771 and WI6691 and FLNC at 7q32 in an interval of 2.07 cM between D7S530 and D7S649.
Similar articles
-
Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the complete FLNB transcribed region.Cytogenet Cell Genet. 1999;85(3-4):267-8. doi: 10.1159/000015309. Cytogenet Cell Genet. 1999. PMID: 10449914 No abstract available.
-
DNA sequencing errors in molecular diagnostics of filamin myopathy.Clin Chem Lab Med. 2010 Oct;48(10):1409-14. doi: 10.1515/CCLM.2010.272. Epub 2010 Jun 27. Clin Chem Lab Med. 2010. PMID: 20578970
-
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.Hum Mol Genet. 2002 Nov 1;11(23):2845-54. doi: 10.1093/hmg/11.23.2845. Hum Mol Genet. 2002. PMID: 12393796
-
Structure and Function of Filamin C in the Muscle Z-Disc.Int J Mol Sci. 2020 Apr 13;21(8):2696. doi: 10.3390/ijms21082696. Int J Mol Sci. 2020. PMID: 32295012 Free PMC article. Review.
-
The filamins: organizers of cell structure and function.Cell Adh Migr. 2011 Mar-Apr;5(2):160-9. doi: 10.4161/cam.5.2.14401. Epub 2011 Mar 1. Cell Adh Migr. 2011. PMID: 21169733 Free PMC article. Review.
Cited by
-
Cardiovascular Involvement in Pediatric FLNC Variants: A Case Series of Fourteen Patients.J Cardiovasc Dev Dis. 2022 Sep 30;9(10):332. doi: 10.3390/jcdd9100332. J Cardiovasc Dev Dis. 2022. PMID: 36286284 Free PMC article.
-
ULK phosphorylation of STX17 controls autophagosome maturation via FLNA.J Cell Biol. 2023 Aug 7;222(8):e202211025. doi: 10.1083/jcb.202211025. Epub 2023 Jun 30. J Cell Biol. 2023. PMID: 37389864 Free PMC article.
-
A mutation update for the FLNC gene in myopathies and cardiomyopathies.Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.
-
Filamin B restricts vaccinia virus spread and is targeted by vaccinia virus protein C4.J Virol. 2024 Mar 19;98(3):e0148523. doi: 10.1128/jvi.01485-23. Epub 2024 Feb 27. J Virol. 2024. PMID: 38412044 Free PMC article.
-
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.Am J Med Genet A. 2018 Jul;176(7):1559-1568. doi: 10.1002/ajmg.a.38828. Epub 2018 May 23. Am J Med Genet A. 2018. PMID: 29797497 Free PMC article.
References
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases
Miscellaneous