WordNet

sequence of a genes DNA that transcribes into protein structures; "exons are interspersed with introns" (同)coding DNA

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(地位を示すために衣服などに付ける)飾り,装師 / 装飾的な馬具,馬飾り
先妻,先夫

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/28 21:40:20」(JST)

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1. 分子遺伝学の原理 principles of molecular genetics
2. Rh（D）同種免疫を合併した妊娠のマネージメント management of pregnancy complicated by rhesus rh alloimmunization
3. 遺伝学用語集 glossary of genetic terms
4. 遺伝性疾患の基本原則 basic principles of genetic disease
5. サラセミア症候群の分子病理 molecular pathology of the thalassemic syndromes

English Journal

Inducible protein traps with dominant phenotypes for functional analysis of the Drosophila genome.

Singari S1, Javeed N, Tardi NJ, Marada S, Carlson JC, Kirk S, Thorn JM, Edwards KA.Author information 1School of Biological Sciences, Illinois State University, Normal, Illinois 61790.AbstractThe Drosophila melanogaster genome has been extensively characterized, but there remains a pressing need to associate gene products with phenotypes, subcellular localizations, and interaction partners. A multifunctional, Minos transposon-based protein trapping system called Hostile takeover (Hto) was developed to facilitate in vivo analyses of endogenous genes, including live imaging, purification of protein complexes, and mutagenesis. The Hto transposon features a UAS enhancer with a basal promoter, followed by an artificial exon 1 and a standard 5' splice site. Upon GAL4 induction, exon 1 can splice to the next exon downstream in the flanking genomic DNA, belonging to a random target gene. Exon 1 encodes a dual tag (FLAG epitope and mCherry red fluorescent protein), which becomes fused to the target protein. Hto was mobilized throughout the genome and then activated by eye-specific GAL4; an F1 screen for abnormal eye phenotypes was used to identify inserts that express disruptive fusion proteins. Approximately 1.7% of new inserts cause eye phenotypes. Of the first 23 verified target genes, 21 can be described as regulators of cell biology and development. Most are transcription factor genes, including AP-2, CG17181, cut, klu, mamo, Sox102F, and sv. Other target genes [l(1)G0232, nuf, pum, and Syt4] make cytoplasmic proteins, and these lines produce diverse fluorescence localization patterns. Hto permits the expression of stable carboxy-terminal subfragments of proteins, which are rarely tested in conventional genetic screens. Some of these may disrupt specific cell pathways, as exemplified by truncated forms of Mastermind and Nuf.
Genetics.Genetics.2014 Jan;196(1):91-105. doi: 10.1534/genetics.113.157529. Epub 2013 Oct 30.
The Drosophila melanogaster genome has been extensively characterized, but there remains a pressing need to associate gene products with phenotypes, subcellular localizations, and interaction partners. A multifunctional, Minos transposon-based protein trapping system called Hostile takeover (Hto) wa
PMID 24172131

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Keupp K1, Li Y1, Vargel I2, Hoischen A3, Richardson R4, Neveling K3, Alanay Y5, Uz E6, Elcioğlu N7, Rachwalski M8, Kamaci S9, Tunçbilek G10, Akin B11, Grötzinger J12, Konas E10, Mavili E10, Müller-Newen G13, Collmann H14, Roscioli T15, Buckley MF15, Yigit G1, Gilissen C3, Kress W16, Veltman J3, Hammerschmidt M17, Akarsu NA11, Wollnik B1.Author information 1Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Institute of Human Genetics, University of Cologne 50931, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne 50931, Cologne, Germany.2Department of Plastic and Reconstructive Surgery, Hacettepe University Medical Faculty 06100, Ankara, Turkey ; Department of Plastic and Reconstructive Surgery, Medical Faculty, Kirikkale University 71100, Kirikkale, Turkey.3Department of Human Genetics, Radboud University Nijmegen Medical Centre 6500HB, Nijmegen, The Netherlands.4Department of Physiology and Pharmacology, University of Bristol BS8 1TD Bristol, U.K.5Department of Pediatrics, Pediatric Genetics Unit, Hacettepe University Medical Faculty 06100, Ankara, Turkey ; Department of Pediatrics, Pediatric Genetics Unit, Acibadem University 34457, İstanbul, Turkey.6Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty 06100, Ankara, Turkey ; Department of Biology, Duzce University 81620, Duzce, Turkey.7Department of Pediatric Genetics, Marmara University Medical Faculty 34668, Istanbul, Turkey.8Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Institute of Human Genetics, University of Cologne 50931, Cologne, Germany.9Department of Orthodontics, Hacettepe University Faculty of Dentistry 06100, Ankara, Turkey.10Department of Plastic and Reconstructive Surgery, Hacettepe University Medical Faculty 06100, Ankara, Turkey.11Department of Medical Genetics, Gene Mapping Laboratory, Hacettepe University Medical Faculty 06100, Ankara, Turkey.12Medical Faculty, Institute of Biochemistry, University of Kiel 24118, Kiel, Germany.13Medical Faculty, Institute of Biochemistry and Molecular Biology, RWTH Aachen University 52074, Aachen, Germany.14Department for Neurosurgery, Medical Faculty, University of Würzburg 97070, Würzburg, Germany.15Department of Human Genetics, Radboud University Nijmegen Medical Centre 6500HB, Nijmegen, The Netherlands ; Department of Haematology and Genetics, South Eastern Area Laboratory Services 2031, Sydney, Australia.16Medical Faculty, Institute of Human Genetics, University of Würzburg 97047, Würzburg, Germany.17Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne 50931, Cologne, Germany ; Institute of Developmental Biology, University of Cologne 50674, Cologne, Germany.AbstractWe have characterized a novel autosomal recessive Crouzon-like craniosynostosis syndrome in a 12-affected member family from Antakya, Turkey, the presenting features of which include: multiple suture synostosis, midface hypoplasia, variable degree of exophthalmos, relative prognathism, a beaked nose, and conductive hearing loss. Homozygosity mapping followed by targeted next-generation sequencing identified a c.479+6T>G mutation in the interleukin 11 receptor alpha gene (IL11RA) on chromosome 9p21. This donor splice-site mutation leads to a high percentage of aberrant IL11RA mRNA transcripts in an affected individual and altered mRNA splicing determined by in vitro exon trapping. An extended IL11RA mutation screen was performed in a cohort of 79 patients with an initial clinical diagnosis of Crouzon syndrome, pansynostosis, or unclassified syndromic craniosynostosis. We identified mutations segregating with the disease in five families: a German patient of Turkish origin and a Turkish family with three affected sibs all of whom were homozygous for the previously identified IL11RA c.479+6T>G mutation; a family with pansynostosis with compound heterozygous missense mutations, p.Pro200Thr and p.Arg237Pro; and two further Turkish families with Crouzon-like syndrome carrying the homozygous nonsense mutations p.Tyr232* and p.Arg292*. Using transient coexpression in HEK293T and COS7 cells, we demonstrated dramatically reduced IL11-mediated STAT3 phosphorylation for all mutations. Immunofluorescence analysis of mouse Il11ra demonstrated specific protein expression in cranial mesenchyme which was localized around the coronal suture tips and in the lambdoidal suture. In situ hybridization analysis of adult zebrafish also detected zfil11ra expression in the coronal suture between the overlapping frontal and parietal plates. This study demonstrates that mutations in the IL11RA gene cause an autosomal recessive Crouzon-like craniosynostosis.
Molecular genetics & genomic medicine.Mol Genet Genomic Med.2013 Nov;1(4):223-37. doi: 10.1002/mgg3.28. Epub 2013 Aug 19.
We have characterized a novel autosomal recessive Crouzon-like craniosynostosis syndrome in a 12-affected member family from Antakya, Turkey, the presenting features of which include: multiple suture synostosis, midface hypoplasia, variable degree of exophthalmos, relative prognathism, a beaked nose
PMID 24498618

Gene-trap mutagenesis using Mol/MSM-1 embryonic stem cells from MSM/Ms mice.

Nakahara M1, Tateyama H, Araki M, Nakagata N, Yamamura K, Araki K.Author information 1Division of Developmental Genetics, Institute of Resource Development and Analysis, Kumamoto University, Honjo 2-2-1, Kumamoto, Japan. 127y2008@st.kumamoto-u.ac.jpAbstractThe MSM/Ms strain is derived from the Japanese wild mouse Mus musculus molossinus and displays characteristics not observed in common laboratory strains. Functional genomic analyses using genetically engineered MSM/Ms mice will reveal novel phenotypes and gene functions/interactions. We previously reported the establishment of a germline-competent embryonic stem (ES) cell line, Mol/MSM-1, from the MSM/Ms strain. To analyze its usefulness for insertional mutagenesis, we performed gene-trapping using these cells. In the present study, we compared the gene-trap events between Mol/MSM-1 and a conventional ES cell line, KTPU8, derived from the F1 progeny of a C57BL/6 × CBA cross. We introduced a promoter-trap vector carrying the promoterless β-galactosidase/neomycin-resistance fusion gene into Mol/MSM-1 and KTPU8 cells, isolated clones, and identified the trapped genes by rapid amplification of cDNA 5'-ends (5'-RACE), inverse PCR, or plasmid rescue. Unexpectedly, the success rate of 5'-RACE in Mol/MSM trap clones was 47 %, lower than the 87 % observed in KTPU8 clones. Genomic analysis of the 5'-RACE-failed clones revealed that most had trapped ribosomal RNA gene regions. The percentage of ribosomal RNA region trap clones was 41 % in Mol/MSM-1 cells, but less than 10 % in KTPU8 cells. However, within the Mol/MSM-1 5'-RACE-successful clones, the trapping frequency of annotated genes, the chromosomal distribution of vector insertions, the frequency of integration into an intron around the start codon-containing exon, and the functional spectrum of trapped genes were comparable to those in KTPU8 cells. By selecting 5'-RACE-successful clones, it is possible to perform gene-trapping efficiently using Mol/MSM-1 ES cells and promoter-trap vectors.
Mammalian genome : official journal of the International Mammalian Genome Society.Mamm Genome.2013 Jun;24(5-6):228-39. doi: 10.1007/s00335-013-9452-4. Epub 2013 Apr 20.
The MSM/Ms strain is derived from the Japanese wild mouse Mus musculus molossinus and displays characteristics not observed in common laboratory strains. Functional genomic analyses using genetically engineered MSM/Ms mice will reveal novel phenotypes and gene functions/interactions. We previously r
PMID 23604909