호모 사피엔스 종의 단백질 코드 유전자
DLL3 로도 알려진 Delta-like 3(Drosophila) 는 [5] 유전자 에 의해 인간에게 암호화되는 단백질 이다.이 유전자에 대해 별개의 등형질을 코드하는 두 가지 전사 변형이 확인되었다.
기능. 이 유전자는 델타 단백질 리간드 패밀리의 일원을 암호화한다. 이 패밀리는 DSL 도메인, EGF 반복 및 트랜스멤브레인 [6] 리간드로 기능 합니다. DLL3의 발현은 태아의 뇌에서 가장 높다. 근축 중배엽 [7]
임상적 의의 이 유전자의 돌연변이는 상염색체 열성 유전병인 야르코-레빈 [8] 이 유전자의 발현은 [9] 신경내분비 종양에서 발생한다.
실험약인 로발피투주맙 테시린은 폐암의 [10]
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG000090932 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG00000003436 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S (July 1999). "A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3" . Am. J. Hum. Genet . 65 (1): 175–82. doi :10.1086/302464 . PMC 1378088 PMID 10364530 . ^ "Entrez Gene: DLL3 delta-like 3 (Drosophila)" .^ Chapman G, Sparrow DB, Kremmer E, Dunwoodie SL (March 2011). "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. doi :10.1093/hmg/ddq529 PMID 21147753 . ^ Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD (April 2000). "Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis". Nat. Genet . 24 (4): 438–41. doi :10.1038/74307 . PMID 10742114 . S2CID 9284439 . ^ Saunders LR, Bankovich AJ, Anderson WC, Aujay MA, Bheddah S, Black K, Desai R, Escarpe PA, Hampl J, Laysang A, Liu D, Lopez-Molina J, Milton M, Park A, Pysz MA, Shao H, Slingerland B, Torgov M, Williams SA, Foord O, Howard P, Jassem J, Badzio A, Czapiewski P, Harpole DH, Dowlati A, Massion PP, Travis WD, Pietanza MC, Poirier JT, Rudin CM, Stull RA, Dylla SJ (August 2015). "A DLL3-targeted antibody-drug conjugate eradicates high-grade pulmonary neuroendocrine tumor-initiating cells in vivo" . Sci. Transl. Med . 7 (302): 302. doi :10.1126/scitranslmed.aac9459 . PMC 4934375 PMID 26311731 . ^ "Rovalpituzumab tesirine - Stemcentrx - AdisInsight" . 외부 링크 추가 정보 Turnpenny PD, Bulman MP, Frayling TM, et al. (1999). "A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3" . Am. J. Hum. Genet . 65 (1): 175–82. doi :10.1086/302464 . PMC 1378088 PMID 10364530 . Bulman MP, Kusumi K, Frayling TM, et al. (2000). "Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis". Nat. Genet . 24 (4): 438–41. doi :10.1038/74307 . PMID 10742114 . S2CID 9284439 . Dunwoodie SL, Clements M, Sparrow DB, et al. (2002). "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. doi :10.1242/dev.129.7.1795 . PMID 11923214 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Turnpenny PD, Whittock N, Duncan J, et al. (2003). "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. doi :10.1136/jmg.40.5.333 . PMC 1735475 PMID 12746394 . Bonafé L, Giunta C, Gassner M, et al. (2004). "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. doi :10.1034/j.1399-0004.2003.00085.x . PMID 12791036 . S2CID 45791073 . Whittock NV, Ellard S, Duncan J, et al. (2005). "Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations". Clin. Genet . 66 (1): 67–72. doi :10.1111/j.0009-9163.2004.00272.x . PMID 15200511 . S2CID 46448881 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Maisenbacher MK, Han JS, O'brien ML, et al. (2005). "Molecular analysis of congenital scoliosis: a candidate gene approach". Hum. Genet . 116 (5): 416–9. doi :10.1007/s00439-005-1253-8 . PMID 15717203 . S2CID 21481013 . Otsuki T, Ota T, Nishikawa T, et al. (2007). "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. doi :10.1093/dnares/12.2.117 PMID 16303743 .
