PMC:6218809 / 2664-3681 JSONTXT

{"project":"2_test","denotations":[{"id":"30388403-20406014-2049209","span":{"begin":348,"end":350},"obj":"20406014"},{"id":"30388403-26416757-2049210","span":{"begin":843,"end":845},"obj":"26416757"},{"id":"30388403-29362874-2049211","span":{"begin":847,"end":849},"obj":"29362874"},{"id":"30388403-21664997-2049212","span":{"begin":851,"end":853},"obj":"21664997"},{"id":"30388403-11861881-2049213","span":{"begin":855,"end":857},"obj":"11861881"},{"id":"30388403-29459708-2049214","span":{"begin":881,"end":883},"obj":"29459708"}],"text":"The human genome assembly carries three glycophorin genes, GYPE (MIM: 138590), GYPB (MIM: 617923), and GYPA (MIM: 617922), tandemly arranged on three ∼120 kb repeats sharing ∼97% identity. Glycophorin A (encoded by GYPA) and glycophorin B (encoded by GYPB) are readily detectable on the surface of erythrocytes and carry the MNS blood group system.18 Mature glycophorin E (encoded by GYPE) is predicted to be 59 amino acids long but has not been unambiguously detected on the erythrocyte surface. The genomic region carrying these genes is known to undergo extensive copy number variation and gene conversion, and rearrangements that shuffle the coding regions of the three genes can generate rare blood group antigens in the Miltenberger series (MIM: 111300).19 This genomic region has also been highlighted as a region of balancing selection20, 21, 22, 23 and positive selection,24 though the effect of extensive gene conversion between the 120 kb repeats on statistical measures of positive selection is not clear."}