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We have identified the first gene lying on the centromeric side of the alpha-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 alpha-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 alpha-globin regulatory domain, we mapped its mouse orthologue, which we found to lie on mouse chromosome 17, separated from the mouse alpha-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 alpha-globin cluster to within an 8-kb segment of chromosome 16.

Original publication




Journal article



Publication Date





307 - 314


Alternative Splicing, Amino Acid Sequence, Animals, Blotting, Northern, Blotting, Southern, CHO Cells, Cell Line, Centromere, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 17, Conserved Sequence, Cricetinae, Evolution, Molecular, Exons, Globins, Humans, Introns, Mice, Models, Genetic, Molecular Sequence Data, Protein Structure, Tertiary, RNA Splicing, RNA, Messenger, RNA-Binding Proteins, Reverse Transcriptase Polymerase Chain Reaction, Ribonucleoproteins, Small Nuclear, Sequence Homology, Amino Acid, Telomere, Tissue Distribution, Transcription, Genetic