DNA replication

DNA replication is the biological process of producing two identical replicas of DNA from one original DNA molecule. This process occurs in all living organisms and is the basis for biological inheritance. The cell possesses the distinctive property of division, which makes replication of DNA essential.


SSBP1 is essential for mitochondrial DNA replication and maintenance, with defects leading to a spectrum of disease that includes optic atrophy and/or retinal dystrophy, occurring with or without extraocular features. A study of Jurkute et al. provided evidence of intrafamilial variability and confirmed the existence of an autosomal recessive inheritance in SSBP1-disease consequent upon a previously unreported genotype 1).


1)
Jurkute N, D'Esposito F, Robson AG, Pitceathly RDS, Cordeiro F, Raymond FL, Moore AT, Michaelides M, Yu-Wai-Man P, Webster AR, Arno G; Genomics England Research Consortium. SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance. Invest Ophthalmol Vis Sci. 2021 Dec 1;62(15):12. doi: 10.1167/iovs.62.15.12. PMID: 34905022; PMCID: PMC8684315.
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