DNA deletion associated with hereditary neuropathy withh liability to pressure palsies

Article Abstract:

The chromosomal aberration associated with hereditary neuropathy with liability to pressure palsies (HNPP) was identified. Using DNA markers developed from Charcot-Marie-Tooth disease type 1 (CMT1), HNPP was attributed to a large deletion in 17p11.2 spanning 1.5 Mb and including all markers mapped to the duplicated region associated with CMT1A. It is proposed that HNPP and CMT1 are the products of unequal crossing over during meiosis, producing a deleted and duplicated region in chromosome 17, respectively.

Genetic aspects, Charcot-Marie-Tooth disease, Polyneuropathies

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An E-MAP of the ER

Article Abstract:

Genes implicated in the secretory pathway are studied to demonstrate the use of genetic interaction mapping in order to predict the gene function. Results indicate that saturation epitasis analysis of genes implicated in the early secretory pathway in yeast provides a new strategy for uncovering functional relationships using high-throughput genomic data.

Genomes

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Silence of the fathers: Early X inactivation

Article Abstract:

The three studies reviewed show an unexpected view of events associated with X inactivation. The inactivation of the paternal X chromosomes is demonstrated, although incomplete, in preimplantation embryos.

X chromosome, Embryo, Preimplantation diagnosis

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