Research Highlights | Nature Reviews Genetics

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Research Highlights | Nature Reviews Genetics"


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You have full access to this article via your institution. Download PDF EVOLUTION EVOLUTIONARY EST ANALYSIS IDENTIFIES RAPIDLY EVOLVING MALE REPRODUCTIVE PROTEINS IN _DROSOPHILA_. Swanson,


W. J. _et al_. _Proc. Natl Acad. Sci. USA_ 98, 7375–7379 (2001) [PubMed] Reproductive proteins are likely candidates for causing the rapid divergence between closely related species, as


their modification favours adaptive divergence. To test this hypothesis, Swanson _et al_. compared the sequences of 285 ESTs (expressed sequence tags) isolated from the male accessory glands


— which secrete seminal-fluid proteins — of _Drosophila simulans_ and _D. melanogaster_. 11% of the 176 genes identified showed evidence of positive selection, and the 57 newly identified


accessory gland genes should become candidate genes for further positive selection studies. CANCER GENETICS MITOTIC RECOMBINATION EFFECTS HOMOZYGOSITY FOR _NF1_ GERMLINE MUTATIONS IN


NEUROFIBROMAS. Serra, E. _et al_. _Nature Genet._ 28, 294–296 (2001) [PubMed] Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder caused by mutations in the _NF1_ tumour


suppressor gene. Of the many cell types seen in NF1 nerve-sheath tumours, only Schwann cells are homozygous for _NF1_ mutations. Through molecular and _in situ_ hybridization of cultured


Schwann cells, this paper shows that loss of heterozygosity for _NF1_ occurs by mitotic recombination. As there is inter-individual variability in mitotic recombination rates, genes that


control this phenomenon might act as modifier genes for susceptibility to NF1 and other cancers. HUMAN GENETICS CHARCOT–MARIE–TOOTH DISEASE TYPE 2A CAUSED BY MUTATION IN A MICROTUBULE MOTOR


K1F1BΒ. Zhao, C. _et al_. _Cell_ 105, 587–597 (2001). [PubMed] CMT2A is a dominant subtype of Charcot–Marie–Tooth disease (CMT) — the most commonly inherited human peripheral neuropathy —


that maps to 1p35–36. When Zhao _et al_. knocked out the mouse β isoform of _K1f1B_ — which encodes a motor protein belonging to the kinesin superfamily — null mutants died at birth with


multiple neurological abnormalities, and heterozygotes developed progressive muscle weakness and defective synaptic vesicle transport. This CMT-like phenotype and the chromosome-1 map


location of _K1f1B_ lead the authors to analyse the gene in CMT2A patients, in whom they found loss-of-function mutations in the motor domain of _K1F1B_. As axons lack protein-synthesis


machinery, their survival depends on the transport of essential proteins. Haploinsufficiency for _K1f1B_ might therefore reduce levels of synaptic vesicle transport of essential factors and


receptors, leading to the impairment of nerve endings and to the decreased survival of peripheral neurons. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS


ARTICLE Research Highlights. _Nat Rev Genet_ 2, 566 (2001). https://doi.org/10.1038/35084571 Download citation * Issue Date: August 2001 * DOI: https://doi.org/10.1038/35084571 SHARE THIS


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Research Highlights | Nature Reviews Genetics

You have full access to this article via your institution. Download PDF EVOLUTION EVOLUTIONARY EST ANALYSIS IDENTIFIES R...

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