CTG Trinucleotide Repeat “Big Jumps”: Large Expansions, Small Mice

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

CTG Trinucleotide Repeat “Big Jumps”: Large Expansions, Small Mice

Trinucleotide repeat expansions are the genetic cause of numerous human diseases, including fragile X mental retardation, Huntington disease, and myotonic dystrophy type 1. Disease severity and age of onset are critically linked to expansion size. Previous mouse models of repeat instability have not recreated large intergenerational expansions ("big jumps"), observed when the repeat is transmit...

متن کامل

The 26S proteasome drives trinucleotide repeat expansions

Trinucleotide repeat (TNR) expansion is the causative mutation for at least 17 inherited neurological diseases. An important question in the field is which proteins drive the expansion process. This study reports that the multi-functional protein Sem1 is a novel driver of TNR expansions in budding yeast. Mutants of SEM1 suppress up to 90% of expansions. Subsequent analysis showed that Sem1 faci...

متن کامل

RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility

Human RTEL1 is an essential, multifunctional helicase that maintains telomeres, regulates homologous recombination, and helps prevent bone marrow failure. Here, we show that RTEL1 also blocks trinucleotide repeat expansions, the causal mutation for 17 neurological diseases. Increased expansion frequencies of (CTG⋅CAG) repeats occurred in human cells following knockdown of RTEL1, but not the alt...

متن کامل

Histone Deacetylase Complexes Promote Trinucleotide Repeat Expansions

Expansions of DNA trinucleotide repeats cause at least 17 inherited neurodegenerative diseases, such as Huntington's disease. Expansions can occur at frequencies approaching 100% in affected families and in transgenic mice, suggesting that specific cellular proteins actively promote (favor) expansions. The inference is that expansions arise due to the presence of these promoting proteins, not t...

متن کامل

Cag.,ctg Trinucleotide Repeat Instability in the E. Coli Chromosome

Expanded CAG-CTG trinucleotide repeat tracts are associated with a number of hereditary neurodegenerative and neuromuscular diseases such as Huntington's disease, myotonic dystrophy and spinocerebellar ataxias. These diseases are characterized by the phenomenon of genetic anticipation, which is defined by a decrease in the age of onset and an increase in severity of the disease with successive ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: PLoS Genetics

سال: 2007

ISSN: 1553-7404

DOI: 10.1371/journal.pgen.0030052