![]() ![]() Of formation, dispersal, and genomic instability of duplicons. To further understand the developmental role of HERC2, a highly conserved Drosophila ortholog was characterized, with 70% amino acid sequence identity to human HERC2 over the carboxy-terminal 743 residues.Ĭombined, these studies provide significant insights into the structure of complex duplicons and into the evolutionary pathways Sequence comparisons show that HERC2-containing duplicons have undergone several deletion, inversion, and dispersion events to form complex duplicons in 15q11,ġ5q13, and 16p11. In intron 2 of HERC2, and putative VNTRs occur in intron 70 (28 copies, ∼76-bp repeat) and 3′ exon 40 through intron 40 (6 copies, ∼62-bp repeat). A processed ribosomal protein L41 pseudogene occurs We have now constructed and sequenced a genomic contig of HERC2, revealing a total of 93 exons spanning ∼250 kb and a CpG island promoter. We identified previously the large HERC2 transcript as an ancestral gene in this duplicon, with ∼11 HERC2-containing duplicons, and demonstrated that recessive mutations in mouse Herc2 lead to a developmental syndrome, juvenile development and fertility 2 ( jdf2). Recently, a chromosome 15 duplicon was discovered in the common breakpoint regions of Prader–Willi and Angelman syndrome deletions. ![]() Recombination between chromosome-specific low-copy repeats (duplicons) is an underlying mechanism for several genetic disorders. ![]()
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