GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:9843207
| Citation |
Ross, AJ, Ruiz-Perez, V, Wang, Y, Hagan, DM, Scherer, S, Lynch, SA, Lindsay, S, Custard, E, Belloni, E, Wilson, DI, Wadey, R, Goodman, F, Orstavik, KH, Monclair, T, Robson, S, Reardon, W, Burn, J, Scambler, P and Strachan, T (1998) A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat. Genet. 20:358-61 |
|---|---|
| Abstract |
Partial absence of the sacrum is a rare congenital defect which also occurs as an autosomal dominant trait; association with anterior meningocoele, presacral teratoma and anorectal abnormalities constitutes the Currarino triad (MIM 176450). Malformation at the caudal end of the developing notochord at approximately Carnegie stage 7 (16 post-ovulatory days), which results in aberrant secondary neurulation, can explain the observed pattern of anomalies. We previously reported linkage to 7q36 markers in two dominantly inherited sacral agenesis families. We now present data refining the initial subchromosomal localization in several additional hereditary sacral agenesis (HSA) families. We excluded several candidate genes before identifying patient-specific mutations in a homeobox gene, HLXB9, which was previously reported to map to 1q41-q42.1 and to be expressed in lymphoid and pancreatic tissues. |
| Links |
PubMed Online version:10.1038/3828 |
| Keywords |
Base Sequence; Bone Diseases/congenital; Bone Diseases/genetics; Chromosomes, Human, Pair 1; Female; Genes, Dominant; Genes, Homeobox; Haplotypes; Humans; Male; Pedigree; Phenotype; Physical Chromosome Mapping; Sacrum/abnormalities |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:0009653: anatomical structure morphogenesis |
ECO:0000304: author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0006357: regulation of transcription by RNA polymerase II |
ECO:0000304: author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
enables |
GO:0003700: DNA-binding transcription factor activity |
ECO:0000304: author statement supported by traceable reference used in manual assertion |
F |
Seeded From UniProt |
complete | |||
See also
References
See Help:References for how to manage references in GONUTS.
