Human and mouse SYBL1 gene structure and expression

• Published in: Gene Vol. 240; no. 1; pp. 233 - 238
• Main Authors: Matarazzo, Maria Rosaria, Cuccurese, Monica, Strazzullo, Maria, Vacca, Marcella, Curci, Anna, Miano, Maria Giuseppina, Cocchia, Massimo, Mercadante, Grazia, Torino, Anna, D'Urso, Michele, Ciccodicola, Alfredo, D'Esposito, Maurizio
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15.11.1999
• Subjects: Animals; Base Sequence; Binding Sites; Blotting, Northern; Chloramphenicol O-Acetyltransferase - genetics; Chloramphenicol O-Acetyltransferase - metabolism; DNA - chemistry; DNA - genetics; Exons; Gene Expression; Gene Expression Regulation, Developmental; Gene silencing; Genes - genetics; HeLa Cells; Humans; Introns; Male; Membrane Proteins - genetics; Mice; Molecular Sequence Data; Promoter Regions, Genetic - genetics; Pseudoautosomal regions; R-SNARE Proteins; Recombinant Fusion Proteins - genetics; Recombinant Fusion Proteins - metabolism; Regulatory Sequences, Nucleic Acid - genetics; RNA, Messenger - genetics; RNA, Messenger - metabolism; Sequence Analysis, DNA; Sequence Homology, Nucleic Acid; SYBL1 gene; Tissue Distribution; Transcription, Genetic; Transcriptional regulation; X chromosome; Gene silencing; β-gal, β-galactosidase; CAT, chloramphenicol acetyltransferase; X chromosome; XqPAR, Xq pseudoautosomal region; Pseudoautosomal regions; RACE, rapid amplification of cDNA ends; Transcriptional regulation; CoA, coenzyme; UTR, untranslated region
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/S0378-1119(99)00375-3

SYBL1 is a gene in the 320 kb human pseudo-autosomal region at the terminus of Xq and Yq. In contrast to other pseudoautosomal genes, SYBL1 is inactivated on one X in every female cell, and is also inactive on the Y of male cells. Hypermethylation of the CpG island associated with the human gene is involved in this phenomenon. In an attempt to further examine its regulation, the genomic organization of the X-linked mouse Sybl1 homolog was analyzed and compared with the human gene. Human and mouse show the same exon number, exon–intron junctions and a highly conserved basal promoter. The structural and functional conservation of basal regulatory regions suggests that inactivation is imposed by similar auxiliary epistatic regulatory mechanism.