Homeobox gene mutations and brain-stem developmental disorders: learning from knockout mice.
Analysis of mice that carry targeted inactivations of Hox, Nkx and Phox2 homeobox genes revealed their involvement in regional patterning of brain-stem territories, in specification of neuronal identity, in establishment of appropriate patterns of connectivity and in control of neurotransmission. The specific abnormalities generated by such mutations may provide clues to the genetic basis and cellular mechanisms that are involved in human brain-stem developmental disorders.
Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, Collège de France, C.U. de Strasbourg, France.
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Pasqualetti
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Rijli
D000818:Animals; D019521:Body Patterning / Q000235:genetics*; D001933:Brain Stem / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology*; D002454:Cell Differentiation / Q000235:genetics; D005801:Genes, Homeobox / Q000502:physiology*; D006801:Humans; D051379:Mice; D018345:Mice, Knockout / Q000002:abnormalities* / Q000235:genetics / Q000378:metabolism; D009421:Nervous System Malformations / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*