Slipping while sleeping? Trinucleotide repeat expansions in germ cells.
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.
Pearson
Christopher E
CE
Program of Genetics and Genomic Biology, The Hospital for Sick Children, 555 University Avenue, Elm Wing 11-135, Toronto, Ontario, Canada M5G 1X8. cepearson@genet.sickkids.on.ca
D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000235:genetics; D008297:Male; D008540:Meiosis / Q000235:genetics* / Q000502:physiology; D009866:Oogenesis / Q000235:genetics / Q000502:physiology; D010063:Ovum / Q000378:metabolism*; D013091:Spermatogenesis / Q000235:genetics / Q000502:physiology; D013094:Spermatozoa / Q000378:metabolism*; D019680:Trinucleotide Repeat Expansion