Differential expression pattern of XqPAR-linked genes SYBL1 and IL9R correlates with the structure and evolution of the region
HUMAN MOLECULAR GENETICS
Authors: DEsposito, M; Matarazzo, MR; Ciccodicola, A; Strazzullo, M; Matzarella, R; Quaderi, NA; Fujiwara, H; Ko, MSH; Rowe, LB; Ricco, A; Archidiacono, N; Rocchi, M; Schlessinger, D; DUrso, M
Abstract
The recently discovered second pseudoautosomal region (XqPAR) contains at least two genes, IL9R and SYBL1. Recent findings show that, like XpPAR genes, IL9R escapes X inactivation and its Y allele is also expressed, but SYBL1 seems to act like an X-linked gene, expressed from the active X chromosome but not from the inactive X or Y. Here we show that differences are also seen in the evolution of the sex chromosome locations of IL9R and SYBL1, IL9R is known to be autosomal in mice, and is X-linked only in primates. SYBL1, however, has been found to be on the X chromosome in all mammals tested, from marsupials to humans, Both genes were duplicated on the Y homologue of the terminal portion of the X chromosome during the evolution of Homo sapiens from other higher primates. The inactivation pattern of SYBL1 may be correlated with its longer history of X linkage, and at a more centromeric chromosomal position during evolution; the more recent X linkage and more telomeric position of the IL9R gene may explain its autosomal, 'uninactivated' transcriptional status.
The Role of IL-9/Il9r in Irritable Bowel Syndrome
GASTROENTEROLOGY
Authors: Beltran, Caroll; Fanning, Aine; Moloney, Gerard; Grenham, Sue; Heuston, Sinead; Melgar, Silvia; Nally, Kenneth; Cryan, John F.; Dinan, Timothy G.; Quigley, Eamonn M.
Abstract