Sprouty proteins are regulators of cell growth and branching morphogenesis. Unlike mouse Spry3, which is X-linked, human SPRY3 maps to the pseudoautosomal region 2; however, the human Y-linked allele is not expressed due to epigenetic silencing by an unknown mechanism. SPRY3 maps adjacent to X-linked Trimethyllysine hydroxylase epsilon (TMLHE), recently identified as an autism susceptibility gene. We report that Spry3 is highly expressed in central and peripheral nervous system ganglion cells in mouse and human, including cerebellar Purkinje cells and retinal ganglion cells.
Alloparental care by females toward their grandoffspring can evolve by kin selection. Previous theoretical studies predicted that selection favors autosomal and X-chromosomal genes, causing altruism toward maternal grandoffspring and paternal granddaughters, respectively, and two corresponding types of biased grandparental investment are suggested by empirical studies on human populations. Using discrete-time two-locus-two-allele models, I examined a possible conflict between the autosomal and the X-chromosomal altruistic genes over the carrier female's time and resources.
Proceedings of the National Academy of Sciences of the United States of America
Transporters at the hepatic canalicular membrane are essential for the formation of bile and the prevention of cholestatic liver disease. One such example is ATP8B1, a P4-type ATPase disrupted in three inherited forms of intrahepatic cholestasis. Mutation of the X-linked mouse gene Atp11c, which encodes a paralogous P4-type ATPase, precludes B-cell development in the adult bone marrow, but also causes hyperbilirubinemia. Here we explore this hyperbilirubinemia in two independent Atp11c mutant mouse lines, and find that it originates from an effect on nonhematopoietic cells.