2017 August 24

New Insights into Blood Group Gene Evolution

Dr Yamamoto, famous for his seminal work on the genetics of the ABO blood groups has brought new insights to the evolution of the ABO and FORs blood group systems in vertebrates.

Dr. Fumiichiro Yamamoto of the Immunohematology and Glycobiology group at Josep Carreras Leukaemia Research Institute (IJC) has published the paper “Evolutionary divergence of the ABO and GBGT1 genes specifying the ABO and FORS blood group systems through chromosomal rearrangements” in the journal Scientific Reports 

Using genomic information available from GenBank and Ensembl databases, Dr Yamamoto constructed the gene order maps of the chromosomal region surrounding the ABO and GBGT1 genes responsible for blood group polymorphism in a variety of vertebrate species. These maps showed that the ABO and GBGT1 genes are located at the boundaries of chromosomal fragments that seem to have been rearranged (inverted/translocated) during the evolution of different species. Because genetic alterations, such as deletions and duplications, are prevalent at the ends of rearranged chromosomal fragments, Dr. Yamamoto has proposed the theory that the unstable nature of chromosomal architecture surrounding these genes has contributed to the fact that whether these genes are present and how well they work, which varies a lot between different species and until now has been poorly understood.

Dr Yamamoto highlights the fact that he has not received any formal education or training in evolutionary biology or bioinformatics, both essential to this work, and he encourages other researchers to solve biologically important questions by going outside the comfort zone of their own area of specialisation.