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J. Biol. Chem., Vol. 279, Issue 40, 41563-41572, October 1, 2004

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Imperfect CAG Repeats Form Diverse Structures in SCA1 Transcripts^*

Krzysztof Sobczak and Wlodzimierz J. Krzyzosiak

From the Laboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznan, Poland

The expanded CAG repeat in the coding sequence of the spinocerebellar ataxia type 1 (SCA1) gene is responsible for SCA1, one of the hereditary human neurodegenerative diseases. In the normal SCA1 alleles usually 1–3 CAT triplets break the continuity of the CAG repeat tracts. Here we show what is the structural role of the CAU interruptions in the SCA1 transcripts. Depending on their number and localization within the repeat tract the interruptions either enlarge the terminal loop of the hairpin formed by the repeats, nucleate the internal loops in its stem structure, or force the repeats to fold into two smaller hairpins. Thus, the interruptions destabilize the CAG repeat hairpin, which is likely to decrease its ability to participate in the putative RNA pathogenesis mechanism driven by the long CAG repeat hairpins.

Received for publication, May 10, 2004 , and in revised form, July 15, 2004.

^* This work was supported by the State Committee for Scientific Research, Grants No 2P05A-08826, PBZ-KBN-040/P04/2001, and Foundation for Polish Science, Grant 8/2000. The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.

To whom correspondence should be addressed: Laboratory of Cancer Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14 St., 61-704 Poznan, Poland. Tel.: 48-61-8528503; Fax: 48-61-8520532; E-mail: wlodkrzy{at}ibch.poznan.pl.

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				K. Sobczak and W. J. Krzyzosiak CAG Repeats Containing CAA Interruptions Form Branched Hairpin Structures in Spinocerebellar Ataxia Type 2 Transcripts J. Biol. Chem., February 4, 2005; 280(5): 3898 - 3910. [Abstract] [Full Text] [PDF]