Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients

Article Abstract:

The hotspot for homologous recombination in hereditary neuropathy with liability to pressure palsies (HNPP) and Charcot-Marie-Tooth disease type 1A (CMT1A) has been narrowed to a 557-bp sequence on chromosome 17p11.2-p12. A polymerase chain reaction strategy was used for amplification of recombinant CMT1A-REP from patients with HNPP and controls. Many independent meiotic recombination events occurring at a single locus have been examined.

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A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination

Article Abstract:

The structural and sequence diversity within the Chatcot-Marie-Tooth disease type 1A-repeats (CMTLA-REPs), both within and between species is investigated. A high frequency of retroelement insertions, accelerated sequence evolution after duplication, extensive paralogous gene conversion, and a greater than twofold enrichment of SNPs are discovered in humans relative to the genome average.

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Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy

Article Abstract:

The biological effect of curcumin in Schwann cells of Trembler-J (Tr-J) mice as well as its potential use for selected forms of inherited peripheral neuropathies is evaluated. It is concluded that curcumin treatment partially mitigates the clinical and neuropathologic phenotype of Tr-J mice by relieving the toxic effect of the mutant peripheral myelin protein 22 gene.

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