A fragile X male with a broad smear on Southern blot analysis representing 100 to 500 CGG repeats and no methylation of the Eag I site of the FMR1 gene. Nuclease sensitivity of permeabilized cells confirms altered chromatin formation at the fragile X locus. Polyalanine expansion in synpolydactaly might result from unequal crossing-over of HOXD13. Trinucleotide repetition and fragile X syndrome. The molecular basis of fragile X syndrome.
Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.
The effect of FMR1 CGG repeat interruptions on mutation frequency as measured by sperm typing. Loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus. Fragile X premutations are not a major cause of early menopause. A new mutational basis for disease. Purified recombinant Fmrp exhibits selective RNA-binding as an intrinsic property of the fragile X mental retardation protein.