Slipping while sleeping? Trinucleotide repeat expansions in germ cells.
نویسنده
چکیده
Trinucleotide expansions cause at least 30 diseases including Huntington's disease (HD). Many are inherited predominantly through paternal transmissions, which are probably the result of germ-cell-specific mutations. A recent study of testicular germ cells in HD patients revealed that expansions occur in diploid cells before the completion of meiosis. Therefore, expansions are not limited to the late-haploid spermatids, in which the genome is 'sleeping'. These results have implications both for research aimed at understanding the transmission of this serious mutation and for developing new therapies for the disease.
منابع مشابه
Huntington disease expansion mutations in humans can occur before meiosis is completed.
Single-molecule DNA analysis of testicular germ cells isolated by laser capture microdissection from two Huntington disease patients showed that trinucleotide repeat expansion mutations were present before the end of the first meiotic division, and some mutations were present even before meiosis began. Most of the larger Huntington disease mutations were found in the postmeiotic cell population...
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ورودعنوان ژورنال:
- Trends in molecular medicine
دوره 9 11 شماره
صفحات -
تاریخ انتشار 2003