Article
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
Human molecular genetics - 1 Feb 2004
Khan Sikandar G, Metin Ahmet, Gozukara Engin, Inui Hiroki, Shahlavi Tala, Muniz-Medina Vanessa, Baker Carl C, Ueda Takahiro, Aiken Juliet R, Schneider Thomas D, Kraemer Kenneth H
Abstract excerpt
The lariat branch point sequence (BPS) is crucial for splicing of human nuclear pre-mRNA yet BPS mutations have infrequently been reported to cause human disease. Using an inverse RT-PCR technique we mapped two BPS to the adenosine residues at positions -4 and -24 in intron 3 of the human XPC DNA repair gene. We identified homozygous mutations in each of these BPS in two newly diagnosed Turkish families with the...
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