Genome-Wide Identification, Characterization and Expression Profiling of Potato (Solanum tuberosum) Frataxin (FH)

Kurt F, Filiz E, Yildiz K, Akbudak MA. Genome-Wide Identification, Characterization and Expression Profiling of Potato (Solanum tuberosum) Frataxin (FH) Gene. Genes. 2023; 14(2):468. https://doi.org/10.3390/genes14020468 

The FH genes were found to have a lineage-specific distribution and were more conserved in monocots than in dicots. While multiple copies of FH genes have been reported in some species, including plants, only one isoform of FH was found in potato. The expression of StFH in leaves and roots was analyzed under two different abiotic stress conditions, and the results showed that StFH was upregulated more in leaves and that its expression levels increased with the severity of the stress. This is the first study to examine the expression of an FH gene under abiotic stress conditions.

Pseudodominance in Friedreich ataxia – impact of high prevalence of carriers and intrafamilial clinical variation

Malaquias, M.J., Oliveira, J., Santos, M., Brandão, A.F., Sardoeira, A., Sequeiros, J., Barros, J. and Damásio, J. (2023), Pseudodominance in Friedreich ataxia – impact of high prevalence of carriers and intrafamilial clinical variation. Mov Disord Clin Pract. Accepted Author Manuscript. https://doi.org/10.1002/mdc3.13694 

 Clinicians should be aware of the possibility of pseudodominance when facing an apparent autosomal dominant pedigree, particularly in disorders with high frequency of carriers and variable expression. Otherwise, genetic diagnoses may be delayed.