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In addition, human duplicates have, on average, much larger duplication spans which are more likely to capture entire ORFs leading to complete duplicates compared to higher proportions of structurally heterogeneous duplicates (partial and chimeric duplications) in Drosophila and C. elegans.
While in the absence of the whole genome sequence we cannot be certain of the mechanism by which these genes duplicated, some support for at least a larger duplication event is found from the genetic map.
In other words, even though duplications involving different chromosomal location of paralogs tend to have larger duplication spans, paralogs still exhibit greater asymmetry when located on different chromosomes.
Evidence points at a larger duplication in fishes, encompassing at least CDC5L, SUPT3H, RUNX2, CLIC5, ENPP4 and ENPP5, followed by differential gene loss.
Interestingly, this ORF is present in two identical copies as part of larger duplication shared between chromosomes 38 and 57, but it is absent entirely from the sequenced mitochondrial genome from a different population of S. noctiflora [ 9].
This is important as we identified other larger duplication events at the locus in two control samples, but do not know if these would have the same or different effects on gene function.
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This is supported by the finding that duplicated genes which are parts of larger duplications retain strongly correlated expression patterns, as long as their neighbourhood is conserved [ 17].
Larger duplications can be caused by crossovers following asymmetrical chromosome pairing or by meiotic irregularities resulting from other types of altered chromosome structures.
ALS cases were found to contain significantly more duplications (p = 0.0018) and significantly larger duplications (p<0.001) than controls.
Both datasets lacked power to detect single-exon heterozygous duplications (Supplementary Fig. S2A D), but larger duplications could be identified.
Hence, we would expect to see larger duplications and smaller deletions in outcrossing populations relative to the mutation accumulation lines.
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