지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 737 - 748 (12page)
이용수
초록· 키워드
오류제보하기
Background Haploinsufficiency of the human nuclear receptor binding suppressor of variegation 3–9, enhancer of zeste, and trithorax (SET) domain 1 (NSD1) gene causes a developmental disorder called Sotos syndrome 1 (SOTOS1), which is associated with overgrowth and macrocephaly. NSD family proteins encoding histone H3 lysine 36 (H3K36) methyltransferases are conserved in many species, and Drosophila has a single NSD homolog gene, NSD. Objective To gain insight into the biological functions of NSD1 deficiency in the developmental anomalies seen in SOTOS1 patients using an NSD-deleted Drosophila mutant. Methods We deleted Drosophila NSD using CRISPR/Cas9-mediated targeted gene knock-out, and analyzed pleiotropic phenotypes of the homozygous mutant of NSD (NSD−/−) at various developmental stages to understand the roles of NSD in Drosophila. Results The site-specific NSD deletion was confirmed in the mutant. The H3K36 di-methylation levels were dramatically decreased in the NSD−/− fly. Compared with the control, the NSD−/− fly displayed an increase in the body size of larvae, similar to the childhood overgrowth phenotype of SOTOS1 patients. Although the NSD mutant flies survived to adulthood, their fecundity was dramatically decreased. Furthermore, the NSD−/− fly showed neurological dysfunctions, such as lower memory performance and motor defects, and a diminished extracellular signal-regulated kinase (ERK) activity. Conclusions The NSD-deleted Drosophila phenotype resembles many of the phenotypes of SOTOS1 patients, such as learning disability, deregulated ERK signaling, and overgrowth; thus, this mutant fly is a relevant model organism to study various SOTOS1 phenotypes.
목차
등록된 정보가 없습니다.
참고문헌 (51)
참고문헌 신청
Agatino Battaglia / 2008 / Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision / American Journal of Medical Genetics Part C: Seminars in Medical Genetics 148C(4):246~251
Oliver Bell / 2007 / Localized H3K36 methylation states define histone H4K16 acetylation during transcriptional elongation in Drosophila / The EMBO Journal 26(24):4974~4984
Laurel B. Bender / 2006 / MES-4: an autosome-associated histone methyltransferase that participates in silencing the X chromosomes in theC. elegansgerm line / Development 133(19):3907~3917
Daphne S. Cabianca / 2019 / Active chromatin marks drive spatial sequestration of heterochromatin in C. elegans nuclei / Nature 569(7758):734~739
Capowski EE / 1991 / Identifcation of grandchildless loci whose products are required for normal germline development in the nematode Caenorhabditis elegans / Genetics 129:1061~1072
Oliver Bell / 2007 / Localized H3K36 methylation states define histone H4K16 acetylation during transcriptional elongation in Drosophila / The EMBO Journal 26(24):4974~4984
Laurel B. Bender / 2006 / MES-4: an autosome-associated histone methyltransferase that participates in silencing the X chromosomes in theC. elegansgerm line / Development 133(19):3907~3917
Daphne S. Cabianca / 2019 / Active chromatin marks drive spatial sequestration of heterochromatin in C. elegans nuclei / Nature 569(7758):734~739
Capowski EE / 1991 / Identifcation of grandchildless loci whose products are required for normal germline development in the nematode Caenorhabditis elegans / Genetics 129:1061~1072
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
The Drosophila histone methyltransferase NSD is positively regulated by the DRE/DREF system
Genes & Genomics
2018 .01
-
On the convergence of series for rowwise sums of negatively superadditive dependent random variables
대한수학회보
2020 .01
-
Methionyl-tRNA Synthetase Regulates Lifespan in Drosophila
Molecules and Cells
2020 .01
-
ON THE COMPLETE CONVERGENCE FOR WEIGHTED SUMS OF NEGATIVELY SUPERADDITIVE DEPENDENT RANDOM VARIABLES
Journal of applied mathematics & informatics
2019 .01
-
Effects of sarah/nebula knockdown on Ab42-induced phenotypes during Drosophila development
Genes & Genomics
2016 .01
-
혼합 최저고도각 반사도 자료를 이용한 레이더 강우추정 정확도 향상
한국지구과학회지
2015 .01
-
Function and regulation of nitric oxide signaling in Drosophila
Molecules and Cells
2024 .01
-
Comparison of Lipid Profiles in Head and Brain Samples of Drosophila Melanogaster Using Electrospray Ionization Mass Spectrometry (ESI-MS)
Mass Spectrometry Letters
2019 .03
-
How Natural Food Intake Affects the Formation of Gut Microbiome in Drosophila
한국미생물학회 학술대회논문집
2015 .04
-
The Drosophila Antimicrobial Response at the Time of the Cas9/CRISPR Gene Targeting Revolution
한국미생물학회 학술대회논문집
2016 .04
-
MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at Drosophila Larval Neuromuscular Junctions
Molecules and Cells
2017 .02
-
Morphological Characterization of small, dumpy, and long Phenotypes in Caenorhabditis elegans
Molecules and Cells
2021 .01
-
Identification of a novel candidate gene for rolled leaf in rice
Genes & Genomics
2016 .01
-
Flightless-I Controls Fat Storage in Drosophila
Molecules and Cells
2018 .06
-
The prominin-like Gene Expressed in a Subset of Dopaminergic Neurons Regulates Locomotion in Drosophila
Molecules and Cells
2022 .09
-
Spatial Randomness Applied to the Assessment of the Association Between a Disease and a Phenotype
Journal of The Korean Data Analysis Society
2019 .01
-
Banana Peel Extracts Enhance Climbing Ability and Extend Lifespan in Drosophila melanogaster
발생과 생식
2024 .09
-
The Role of Lozenge in Drosophila Hematopoiesis
Molecules and Cells
2020 .01
-
Personalized Medicine Based on Deep Human Phenotyping
한국미생물학회 학술대회논문집
2022 .10
-
The Expression of Human Cathelicidin-Like cg6568 of Drosophila melanogaster is Inhibited by Mycobacterial Infection
한국미생물학회 학술대회논문집
2015 .04
이 논문의 저자 정보
최근 본 자료
댓글(0)
0