Concepedia

Disruption of a GATA1-binding motif upstream of XG/PBDX abolishes Xga expression and resolves the Xg blood group system

Mattias Möller, Yan Quan Lee, Karina Vidovic, Sven Kjellström, Linda Björkman, Jill R. Storry, Martin L. Olsson

Blood · 2018 · 38 citations · 21 references

DOIFull text

Open access

Concepts

Abstract

Key Points Expression of the Xg blood group protein is governed by rs311103, and its minor allele disrupts a GATA motif to cause the Xg(a−) phenotype. These data elucidate the genetic basis of the last unresolved blood group system and make genotyping for Xga status possible.

References

21

A global reference for human genetic variation

Richard Durbin, Peter Donnelly, Paul Flicek et al. · Nature · 2015 · 20K citations · Full text

, , +13

Genetic effects on gene expression across human tissues

Nature · 2017 · 4.6K citations · Full text

, , +17

JASPAR 2018: update of the open-access database of transcription factor binding profiles and its web framework

Aziz Khan, Oriol Fornés, Arnaud Stigliani et al. · Nucleic Acids Research · 2017 · 1.6K citations · Full text

, , +14

Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy–negative individuals

Christophe Tournamille, Yves Colin, Jean‐Pierre Cartron et al. · Nature Genetics · 1995 · 749 citations

, , +7

Combinatorial Assembly of Developmental Stage-Specific Enhancers Controls Gene Expression Programs during Human Erythropoiesis

Jian Xu, Zhen Shao, Kimberly Glass et al. · Developmental Cell · 2012 · 202 citations · Full text

, , +13