Biology:DLL3
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
Delta-like 3 (Drosophila), also known as DLL3, is a protein which in humans is encoded by the DLL3 gene.[1] Two transcript variants encoding distinct isoforms have been identified for this gene.
Function
This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain.[2] Expression of DLL3 is highest in fetal brain. It plays a key role in somitogenesis within the Paraxial mesoderm.[3]
Clinical significance
Mutations in this gene cause the autosomal recessive genetic disorder Jarcho-Levin syndrome.[4] Expression of the gene occurs in Neuroendocrine tumors, which has been targeted as a potential pathway for treatment.[5]
An experimental drug, rovalpituzumab tesirine, targets DLL3 as a possible treatment for lung cancer.[6]
References
- ↑ "A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3". Am. J. Hum. Genet. 65 (1): 175–82. July 1999. doi:10.1086/302464. PMID 10364530.
- ↑ "Entrez Gene: DLL3 delta-like 3 (Drosophila)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10683.
- ↑ "Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis". Human Molecular Genetics 20 (5): 438–41. March 2011. doi:10.1093/hmg/ddq529. PMID 21147753.
- ↑ "Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis". Nat. Genet. 24 (4): 438–41. April 2000. doi:10.1038/74307. PMID 10742114.
- ↑ "A DLL3-targeted antibody-drug conjugate eradicates high-grade pulmonary neuroendocrine tumor-initiating cells in vivo". Sci. Transl. Med. 7 (302): 302. August 2015. doi:10.1126/scitranslmed.aac9459. PMID 26311731.
- ↑ "Rovalpituzumab tesirine - Stemcentrx - AdisInsight". http://adisinsight.springer.com/drugs/800038447.
External links
Further reading
- "A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.". Am. J. Hum. Genet. 65 (1): 175–82. 1999. doi:10.1086/302464. PMID 10364530.
- "Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.". Nat. Genet. 24 (4): 438–41. 2000. doi:10.1038/74307. PMID 10742114.
- "Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm.". Development 129 (7): 1795–806. 2002. doi:10.1242/dev.129.7.1795. PMID 11923214. https://discovery.ucl.ac.uk/id/eprint/10090336/.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.". J. Med. Genet. 40 (5): 333–9. 2003. doi:10.1136/jmg.40.5.333. PMID 12746394.
- "A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.". Clin. Genet. 64 (1): 28–35. 2004. doi:10.1034/j.1399-0004.2003.00085.x. PMID 12791036.
- "Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.". Clin. Genet. 66 (1): 67–72. 2005. doi:10.1111/j.0009-9163.2004.00272.x. PMID 15200511.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Molecular analysis of congenital scoliosis: a candidate gene approach.". Hum. Genet. 116 (5): 416–9. 2005. doi:10.1007/s00439-005-1253-8. PMID 15717203.
- "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.". DNA Res. 12 (2): 117–26. 2007. doi:10.1093/dnares/12.2.117. PMID 16303743.
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