Article Abstract:
A novel approach to the development of transgenic models of the human xeroderma pigmentosum (XPD) disease was reported by Jan de Boer et al in 'Molecular Cell.' The study confirmed the relationship between a specific mutation and the XPD-associated clinical condition termed as photosensitive hair-loss disease trichithiodystrophy (TTD). This was done by using an arginine-to-tryptophan mutation close to the XPD gene's 3' terminus found in a TTD patient. Although the animals produced by this technique closely mimicked human TTD patients, limited neurological degeneration was observed.
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Article Abstract:
Previous studies indicated the influence of the chromosomal environment on gene expression in transgenic mice. Likewise, the beta-globin locus control region (LCR) was observed to overcome the confounding effects of the chromosomal environment through maintaining an open domain which enables the LCR to interact with transcription factors and each other. However, an open structure de novo which resulted in new beta-LCR deletion experiments showed that the mouse LCR is not required for initiation or maintenance of the open chromosomal environment.
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Article Abstract:
A study generates transgenic mice through a large genomic fragment which includes the human neurofilament heavy (NF-H) gene. A modest overexpression of NF-H cross-linkers is revealed to cause a progressive neuropathy which has the pathological properties of amyotrophic lateral sclerosis, such as neurological defects and abnormal neurofilamentous swellings with axonopathy and muscle atrophy. These features also partly arise from an impairment of neurofilament transport.
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