Disease-associated repeat instability and mismatch repair
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- 作者：Monika H.M. Schmidta ; b ; Christopher E. Pearsona ; b ; cepearson.sickkids@gmail.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：MMR ; mismatch repair ; MSH ; mutS homolog ; MLH ; mutL homolog ; BER ; base excision repair ; NER ; nucleotide excision repair ; TNR ; trinucleotide repeat ; DM1 ; myotonic dystrophy type 1 ; HD ; huntington&rsquo ; s disease ; FRDA ; Friedreich&rsquo ; s ataxia ; FXD ; fragile X disease ; FXS ; fragile X sydrome ; FRAXA ; Fragile X type A ; hESC ; human embryonic stem cell(s) ; B6 ; C57BL/6J mouse background ; CBy ; BALB/cByJ mouse background ; Polβ ; polymerase beta ; Polδ ; polymerase delta
- 刊名：DNA Repair
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：38
- 期：Complete
- 页码：117-126
- 全文大小：891 K
文摘
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The breadth of mismatch repair proteins involved in modifying disease-associated repeat instability now includes MSH2, MSH3, MSH6, MLH1, MLH3, and PMS2.
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MMR proteins can drive expansions of disease-associated repeats, and they can regulate contractions of the expanded repeat.
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The spectrum of disease-associated repeats modified by MMR proteins has broadened to include not only CAG/CTG repeats, but also, CGG/CCG and GAA/TTC repeats.
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Naturally occurring polymorphic variants of MMR proteins can dramatically affect instability levels of disease-associated repeats.