The multiple facets of the SMC1A gene
1Institute for Genetic and Biomedical Research (IRGB), National Research Council (CNR), Pisa, Italy.
Gene
|March 31, 2020
Summary
The SMC1A gene is crucial for sister chromatid cohesion, DNA repair, and genome organization. Variants in SMC1A are linked to rare developmental disorders, neurological conditions, and various cancers.
Area of Science:
- Molecular Biology
- Genetics
- Cell Biology
Background:
- Structural Maintenance of Chromosomes (SMCs) are vital ring complexes involved in DNA transactions.
- The SMC1A gene encodes a subunit of the cohesin-core complex, essential for sister chromatid tethering during cell division.
- SMC1A plays roles in gene transcription, genome organization, and DNA Damage Repair (DDR) pathways.
Purpose of the Study:
- To summarize current knowledge regarding the SMC1A gene.
- To highlight the diverse functions of SMC1A in cellular processes.
- To review the clinical implications of SMC1A variants.
Main Methods:
- Literature review of studies on the SMC1A gene.
- Analysis of SMC1A's role in chromosome segregation and DNA repair pathways.
- Compilation of reported pathogenic variants and associated phenotypes.
Main Results:
- SMC1A is phosphorylated by ATM and ATR kinases in the DDR pathway.
- SMC1A is a component of the Recombination protein complex (RC-1) involved in DNA repair.
- Pathogenic variants in SMC1A are associated with Cornelia de Lange syndrome (CdLS), epilepsy, Rett syndrome-like phenotypes, and cancers.
Conclusions:
- SMC1A is a multifunctional gene with critical roles in genome stability and cellular processes.
- Dysregulation of SMC1A is implicated in a spectrum of human diseases, including developmental disorders and cancer.
- Further research into SMC1A function and variant effects is warranted.
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