Not exact matches
Although none of the German Neolithic samples carries the copy number expansion of the AMY2B
gene associated with starch digestion, we find that this
gene is present in three copies in NGD, though this is due to a large segmental
duplication that is shared with multiple modern dogs, an event separate from the tandem AMY2B
duplications.
Sequencing accelerates the analysis of cancer
associated alterations in genome sequence such as insertions and deletions, CNVs, inversions,
duplications, translocations and
gene fusions, as well as single nucleotide variants.
We found an excess of
gene duplications in the East African lineage compared to tilapia and other teleosts, an abundance of non-coding element divergence, accelerated coding sequence evolution, expression divergence
associated with transposable element insertions, and regulation by novel microRNAs.
We found that an unusually high number of
genes affected by these DNA deletions /
duplications are
associated with the functioning of synaptic transmission between nerve cells.
MANDs share similar clinical phenotypes and are reported to be caused by deletions,
duplications, or pathogenic variants of MBD5, a
gene that has been implicated in Autism Spectrum Disorder (ASD) and shares pathways with other ASD -
associated genes.