Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 geneChromosomes, Human, Pair 11AnimalsHumansMiceAniridiaDNA-Binding ProteinsHomeodomain ProteinsEye ProteinsTranscription FactorsRepressor ProteinsAniridia is a semidominant disorder in which development of the iris, lens, ...
gene6;Transcriptionfactor;Humans;Eyeabnormalities—causinggene;Mutation; Regulation of geneexpression;Braindevelopment;Eyedevelopment 人类配对盒基因6(pairedboxgene6,Pax6)是控眼(smalleye,Sey)与人类无虹膜症(aniridia,AN)。1-3]。 制大脑发育的关键基因,其突变、表达水平改变或功能小鼠Sey是指小眼基因在杂合子...
In humans, heterozygous mutations of the PAX6 gene cause aniridia (absence of the iris) and related developmental eye diseases. PAX6 mutations are archived in the Human PAX6 Allelic Variant Database, which currently contains 309 records, 286 of which are mutations in patients with eye ...
Despite extensive experimentation on this gene in multiple species, including humans, we still do not understand the earliest effects on development mediated by this gene. This prompted us to develop pax6 mutant lines in Xenopus tropicalis taking advantage of the utility of the Xenopus system for ...
Dr. Hanson describes the remarkable studies that have determined the relationship between the PAX6 gene and eye development. These studies include observations of anomalies in humans and also experimental studies in animals to determine the mechanism of action of the gene. In children with aniridia,...
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What is the example of the Pax6 gene?PAX 6 Gene:PAX6 primarily present at the outermost surface of the corneal, retinal cell types and even within embryonic neuroectoderms during a preliminary phase, subsequently in the dividing units in the cornea as well as the retina. It can have a ...
. In humans,PAX6heterozygosity is associated with glucose intolerance [22].Pax6overexpression in mice carrying multiple copies of the humanPAX6gene impairs normal development of the eye, leading to reduced eye size and photoreceptor loss in the retina [23] and causes cell autonomous defects in late...
The DNA binding transcription factor paired box protein 6 (Pax6) is a master control regulator for eye morphogenesis in a wide range of animal species14. ThePax6gene is a member of thePaxgene family; the Pax6 protein contains a paired box domain and a homeobox domain15,16,17and shows functi...
Although embryonic deletion of the Pax6 gene in mice leads to loss of most pancreatic islet cell types, the functional consequences of Pax6 loss in adults are poorly defined. Here we developed a mouse line in which Pax6 was selectively inactivated in β cells by crossing animals with floxed ...