Characterization of a Widely Expressed Gene (LUC7-LIKE; LUC7L) Defining the Centromeric Boundary of the Human α-Globin Domain |
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| Authors: | Cristina Tufarelli Anna-Maria Frischauf Ross Hardison Jonathan Flint Douglas R. Higgs |
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| Affiliation: | a MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, United Kingdom;b Institut fuer Genetik und Allgemeine Biologie, Universitaet Salzburg, Salzburg, Austria;d Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, Pennsylvania, 16802;c Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford, OX3 7BN, United Kingdom |
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| Abstract: | We have identified the first gene lying on the centromeric side of the α-globin gene cluster on human 16p13.3. The gene, called 16pHQG;16 (HGMW-approved symbol LUC7L), is widely transcribed and lies in the opposite orientation with respect to the α-globin genes. This gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5′ splice site selection. To examine the role of the 16pHQG;16 gene in delimiting the extent of the α-globin regulatory domain, we mapped its mouse orthologue, which we found to lie on mouse chromosome 17, separated from the mouse α-cluster on chromosome 11. Establishing the full extent of the human 16pHQG;16 gene has allowed us to define the centromeric limit of the region of conserved synteny around the human α-globin cluster to within an 8-kb segment of chromosome 16. |
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