| dachsous 1 (Drosophila) | OKDB#: 4553 |
| Symbols: | DCHS1 | Species: | human | ||
| Synonyms: | FIB1, CDH25, CDHR6, PCDH16,FIB1, CDH25, CDHR6, PCDH16, FLJ11790, KIAA1773,FIB1, CDH25, CDHR6, PCDH16, FLJ11790, KIAA1773, | Locus: | 11p15.4 in Homo sapiens |
|
For retrieval of Nucleotide and Amino Acid sequences please go to:
OMIM
Entrez Gene
Mammalian Reproductive Genetics Endometrium Database Resource Orthologous Genes UCSC Genome Browser GEO Profiles new! Amazonia (transcriptome data) new! R-L INTERACTIONS MGI |
| General Comment |
upstream of Hippo signaling. Dachsous 1 and 2 are ligands for the transmembrane cadherin FAT4Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Cappello S 2013 et al.
The regulated proliferation and differentiation of neural stem cells before the generation and migration of neurons in the cerebral cortex are central aspects of mammalian development. Periventricular neuronal heterotopia, a specific form of mislocalization of cortical neurons, can arise from neuronal progenitors that fail to negotiate aspects of these developmental processes. Here we show that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia. Reducing the expression of Dchs1 or Fat4 within mouse embryonic neuroepithelium increased progenitor cell numbers and reduced their differentiation into neurons, resulting in the heterotopic accumulation of cells below the neuronal layers in the neocortex, reminiscent of the human phenotype. These effects were countered by concurrent knockdown of Yap, a transcriptional effector of the Hippo signaling pathway. These findings implicate Dchs1 and Fat4 upstream of Yap as key regulators of mammalian neurogenesis.
/////////////////////////
NCBI Summary: This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008] |
||||
| General function | Ligand, Cell adhesion molecule | ||||
| Comment | |||||
| Cellular localization | Plasma membrane | ||||
| Comment | |||||
| Ovarian function | |||||
| Comment | |||||
| Expression regulated by | |||||
| Comment | |||||
| Ovarian localization | |||||
| Comment | |||||
| Follicle stages | |||||
| Comment | |||||
| Phenotypes | |||||
| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
| Links |
|
| created: | Sept. 16, 2011, 10:06 a.m. | by: |
hsueh email:
home page: |
| last update: | Sept. 26, 2013, 9:23 a.m. | by: | hsueh email: |
Click here to return to gene search form