Base de dados : MEDLINE
Pesquisa : C11.270.040 [Categoria DeCS]
Referências encontradas : 1607 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 161 ir para página                         

  1 / 1607 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27776349
[Au] Autor:De Summa S; Guida M; Tommasi S; Strippoli S; Pellegrini C; Fargnoli MC; Pilato B; Natalicchio I; Guida G; Pinto R
[Ad] Endereço:IRCCS Istituto Tumori "Giovanni Paolo II", Molecular Genetics Laboratory, Bari, Italy.
[Ti] Título:Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.
[So] Source:Oncotarget;8(18):29751-29759, 2017 May 02.
[Is] ISSN:1949-2553
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Multiple primary melanoma (MPM) is a rare condition, whose genetic basis has not yet been clarified. Only 8-12% of MPM are due to germline mutations of CDKN2A. However, other genes (POT1, BRCA1/2, MC1R, MGMT) have been demonstrated to be involved in predisposition to this pathology.To our knowledge, this is the first family study based on two siblings with the rare coexistence of MPM and oculocutaneous albinism (OCA), an autosomal recessive disease characterized by the absence or decrease in pigmentation in the skin, hair, and eyes.In this study, we evaluated genes involved in melanoma predisposition (CDKN2A, CDK4, MC1R, MITF, POT1, RB1, MGMT, BRCA1, BRCA2), pathogenesis (BRAF, NRAS, PIK3CA, KIT, PTEN), skin/hair pigmentation (MC1R, MITF) and in immune pathways (CTLA4) to individuate alterations able to explain the rare onset of MPM and OCA in indexes and the transmission in their pedigree.From the analysis of the pedigree, we were able to identify a "protective" haplotype with respect to MPM, including MGMT p.I174V alteration. The second generation offspring is under strict follow up as some of them have a higher risk of developing MPM according to our model.
[Mh] Termos MeSH primário: Albinismo/genética
Estudos de Associação Genética
Predisposição Genética para Doença
Mutação em Linhagem Germinativa
Melanoma/genética
Mutação
Neoplasias Primárias Múltiplas/genética
[Mh] Termos MeSH secundário: Albinismo/diagnóstico
Biomarcadores
Biologia Computacional/métodos
Metilação de DNA
Metilases de Modificação do DNA/química
Metilases de Modificação do DNA/genética
Análise Mutacional de DNA
Enzimas Reparadoras do DNA/química
Enzimas Reparadoras do DNA/genética
Família
Feminino
Genótipo
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Melanoma/diagnóstico
Meia-Idade
Modelos Moleculares
Anotação de Sequência Molecular
Neoplasias Primárias Múltiplas/diagnóstico
Linhagem
Filogenia
Conformação Proteica
Irmãos
Proteínas Supressoras de Tumor/química
Proteínas Supressoras de Tumor/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (Tumor Suppressor Proteins); EC 2.1.1.- (DNA Modification Methylases); EC 2.1.1.63 (MGMT protein, human); EC 6.5.1.- (DNA Repair Enzymes)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180305
[Lr] Data última revisão:
180305
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE
[do] DOI:10.18632/oncotarget.12777


  2 / 1607 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28777813
[Au] Autor:Wang N; Wang R; Wang R; Tian Y; Shao C; Jia X; Chen S
[Ad] Endereço:Key Laboratory for Sustainable Development of Marine Fisheries, Ministry of Agriculture, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, Qingdao, China.
[Ti] Título:The integrated analysis of RNA-seq and microRNA-seq depicts miRNA-mRNA networks involved in Japanese flounder (Paralichthys olivaceus) albinism.
[So] Source:PLoS One;12(8):e0181761, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Albinism, a phenomenon characterized by pigmentation deficiency on the ocular side of Japanese flounder (Paralichthys olivaceus), has caused significant damage. Limited mRNA and microRNA (miRNA) information is available on fish pigmentation deficiency. In this study, a high-throughput sequencing strategy was employed to identify the mRNA and miRNAs involved in P. olivaceus albinism. Based on P. olivaceus genome, RNA-seq identified 21,787 know genes and 711 new genes by transcripts assembly. Of those, 235 genes exhibited significantly different expression pattern (fold change ≥2 or ≤0.5 and q-value≤0.05), including 194 down-regulated genes and 41 up-regulated genes in albino versus normally pigmented individuals. These genes were enriched to 81 GO terms and 9 KEGG pathways (p≤0.05). Among those, the pigmentation related pathways-Melanogenesis and tyrosine metabolism were contained. High-throughput miRNA sequencing identified a total of 475 miRNAs, including 64 novel miRNAs. Furthermore, 33 differentially expressed miRNAs containing 13 up-regulated and 20 down-regulated miRNAs were identified in albino versus normally pigmented individuals (fold change ≥1.5 or ≤0.67 and p≤0.05). The next target prediction discovered a variety of putative target genes, of which, 134 genes including Tyrosinase (TYR), Tyrosinase-related protein 1 (TYRP1), Microphthalmia-associated transcription factor (MITF) were overlapped with differentially expressed genes derived from RNA-seq. These target genes were significantly enriched to 254 GO terms and 103 KEGG pathways (p<0.001). Of those, tyrosine metabolism, lysosomes, phototransduction pathways, etc., attracted considerable attention due to their involvement in regulating skin pigmentation. Expression patterns of differentially expressed mRNA and miRNAs were validated in 10 mRNA and 10 miRNAs by qRT-PCR. With high-throughput mRNA and miRNA sequencing and analysis, a series of interested mRNA and miRNAs involved in fish pigmentation are identified. And the miRNA-mRNA regulatory network also provides a solid starting point for further elucidation of fish pigmentation deficiency.
[Mh] Termos MeSH primário: Albinismo/genética
Proteínas de Peixes/genética
Linguado/genética
Redes Reguladoras de Genes
Sequenciamento de Nucleotídeos em Larga Escala/métodos
MicroRNAs/genética
RNA Mensageiro/genética
[Mh] Termos MeSH secundário: Animais
Linguado/crescimento & desenvolvimento
Perfilação da Expressão Gênica
Análise de Sequência de RNA/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Fish Proteins); 0 (MicroRNAs); 0 (RNA, Messenger)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170805
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0181761


  3 / 1607 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28734636
[Au] Autor:Arveiler B; Lasseaux E; Morice-Picard F
[Ad] Endereço:CHU de Bordeaux, service de génétique médicale, 33076 Bordeaux, France; Laboratoire maladies rares, génétique et métabolisme, Inserm U1211, 33076 Bordeaux, France. Electronic address: benoit.arveiler@chu-bordeaux.fr.
[Ti] Título:[Clinical and genetic aspects of albinism].
[Ti] Título:Clinique et génétique de l'albinisme..
[So] Source:Presse Med;46(7-8 Pt 1):648-654, 2017 Jul - Aug.
[Is] ISSN:2213-0276
[Cp] País de publicação:France
[La] Idioma:fre
[Ab] Resumo:Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy. Albinism is heterogeneous both at the clinical and genetic levels. It is characterized by ocular development anomalies and by a variable degree of hypopigmentation. Clinically, three forms of the disease are described: oculocutaneous, ocular and syndromic (Hermansky-Pudlak syndrome, Chediak-Higashi syndrome). Nineteen genes involved in the different types of albinism have been described so far. The broad phenotypic variability between the different forms but also within a particular form renders the establishment of phenotype-genotype correlations impossible. A genetic test exploring all 19 genes is necessary to establish the diagnosis and to distinguish between syndromic and non-syndromic forms. We present the creation of an albinism-dedicated Day Hospital at the University Hospital of Bordeaux.
[Mh] Termos MeSH primário: Albinismo/genética
[Mh] Termos MeSH secundário: Síndrome de Chediak-Higashi/diagnóstico
Síndrome de Chediak-Higashi/genética
Testes Genéticos
Seres Humanos
Mutação
Fotofobia/etiologia
Transtornos da Visão/etiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170911
[Lr] Data última revisão:
170911
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170724
[St] Status:MEDLINE


  4 / 1607 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28476152
[Au] Autor:Galante Rocha de Vasconcelos FT; Hauzman E; Dutra Henriques L; Kilpp Goulart PR; de Faria Galvão O; Sano RY; da Silva Souza G; Lynch Alfaro J; de Lima Silveira LC; Fix Ventura D; Oliveira Bonci DM
[Ad] Endereço:Departamento de Psicologia Experimental, Instituto de Psicologia, Universidade de São Paulo, Av. Professor Mello Moraes 1721 Bloco A Sala D9 - Butantã, São Paulo, SP, Brazil, 05508-030.
[Ti] Título:A novel nonsense mutation in the tyrosinase gene is related to the albinism in a capuchin monkey (Sapajus apella).
[So] Source:BMC Genet;18(1):39, 2017 May 05.
[Is] ISSN:1471-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Oculocutaneous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eyes, hair and skin. The OCA phenotype may be caused by mutations in the tyrosinase gene (TYR), which expresses the tyrosinase enzyme and has an important role in the synthesis of melanin pigment. The aim of this study was to identify the genetic mutation responsible for the albinism in a captive capuchin monkey, and to describe the TYR gene of normal phenotype individuals. In addition, we identified the subject's species. RESULTS: A homozygous nonsense mutation was identified in exon 1 of the TYR gene, with the substitution of a cytosine for a thymine nucleotide (C64T) at codon 22, leading to a premature stop codon (R22X) in the albino robust capuchin monkey. The albino and five non-albino robust capuchin monkeys were identified as Sapajus apella, based on phylogenetic analyses, pelage pattern and geographic provenance. One individual was identified as S. macrocephalus. CONCLUSION: We conclude that the point mutation C64T in the TYR gene is responsible for the OCA1 albino phenotype in the capuchin monkey, classified as Sapajus apella.
[Mh] Termos MeSH primário: Albinismo/veterinária
Cebus
Códon sem Sentido/genética
Doenças dos Macacos/genética
Monofenol Mono-Oxigenase/genética
[Mh] Termos MeSH secundário: Albinismo/enzimologia
Albinismo/genética
Animais
Feminino
Masculino
Doenças dos Macacos/enzimologia
Fenótipo
Filogenia
Pigmentação/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); EC 1.14.18.1 (Monophenol Monooxygenase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170507
[St] Status:MEDLINE
[do] DOI:10.1186/s12863-017-0504-8


  5 / 1607 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28389912
[Au] Autor:Gurdita A; Tan B; Joos KM; Bizheva K; Choh V
[Ad] Endereço:School of Optometry and Vision Science, University of Waterloo, Waterloo, ON, N2L 3G1, Canada.
[Ti] Título:Pigmented and albino rats differ in their responses to moderate, acute and reversible intraocular pressure elevation.
[So] Source:Doc Ophthalmol;134(3):205-219, 2017 Jun.
[Is] ISSN:1573-2622
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To compare the electrophysiological and morphological responses to acute, moderately elevated intraocular pressure (IOP) in Sprague-Dawley (SD), Long-Evans (LE) and Brown Norway (BN) rat eyes. METHODS: Eleven-week-old SD (n = 5), LE (n = 5) and BN (n = 5) rats were used. Scotopic threshold responses (STRs), Maxwellian flash electroretinograms (ERGs) or ultrahigh-resolution optical coherence tomography (UHR-OCT) images of the rat retinas were collected from both eyes before, during and after IOP elevation of one eye. IOP was raised to ~35 mmHg for 1 h using a vascular loop, while the other eye served as a control. STRs, ERGs and UHR-OCT images were acquired on 3 days separated by 1 day of no experimental manipulation. RESULTS: There were no significant differences between species in baseline electroretinography. However, during IOP elevation, peak positive STR amplitudes in LE (mean ± standard deviation 259 ± 124 µV) and BN (228 ± 96 µV) rats were about fourfold higher than those in SD rats (56 ± 46 µV) rats (p = 0.0002 for both). Similarly, during elevated IOP, ERG b-wave amplitudes were twofold higher in LE and BN rats compared to those of SD rats (947 ± 129 µV and 892 ± 184 µV, vs 427 ± 138 µV; p = 0.0002 for both). UHR-OCT images showed backward bowing in all groups during IOP elevation, with a return to typical form about 30 min after IOP elevation. CONCLUSION: Differences in the loop-induced responses between the strains are likely due to different inherent retinal morphology and physiology.
[Mh] Termos MeSH primário: Albinismo/fisiopatologia
Pressão Intraocular/fisiologia
Hipertensão Ocular/fisiopatologia
Retina/fisiopatologia
[Mh] Termos MeSH secundário: Doença Aguda
Análise de Variância
Animais
Adaptação à Escuridão/fisiologia
Eletrorretinografia
Masculino
Ratos
Ratos Endogâmicos BN
Ratos Long-Evans
Ratos Sprague-Dawley
Células Ganglionares da Retina/fisiologia
Tomografia de Coerência Óptica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170808
[Lr] Data última revisão:
170808
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170409
[St] Status:MEDLINE
[do] DOI:10.1007/s10633-017-9586-x


  6 / 1607 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28212783
[Au] Autor:Ibrahim MAA; Elwan WM
[Ad] Endereço:Histology and Cell Biology Department, Faculty of Medicine, Tanta University, Tanta, Egypt. Electronic address: maleox68@yahoo.com.
[Ti] Título:Role of topical dehydroepiandrosterone in ameliorating isotretinoin-induced Meibomian gland dysfunction in adult male albino rat.
[So] Source:Ann Anat;211:78-87, 2017 May.
[Is] ISSN:1618-0402
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Isotretinoin broad effectiveness is limited by its detrimental effect on the Meibomian glands. Androgens have been reported to regulate the Meibomian gland function. Dehydroepiandrosterone (DHEA) is an androgen precursor considered as an efficient and physiological anti-ageing skin agent. This study aimed to investigate the role of the topical DHEA in ameliorating Meibomian gland dysfunction caused by isotretinoin employing different histological and immunohistochemical techniques. Twenty-four adult male albino rats were divided into four equal groups; control group, DHEA-treated group (1% twice daily for 3 months), isotretinoin-treated group (0.5mg/kg/day for 3 months), and both isotretinoin and DHEA-treated group. Meibomian gland specimens were processed for light microscopy. Immunohistochemical study was carried out using antibodies for proliferating cell nuclear antigen (PCNA), androgen receptor (AR) and estrogen receptor-alpha (ER-α). Sections from the isotretinoin-treated group revealed a reduction in the number and size of acini. Thickening and keratinization of the epithelial lining of the ducts were observed. Multiple degenerated acini and casts of acinar cells in the ducts of Meibomian glands were detected. Some dilated congested blood vessels and mononuclear cells were occasionally seen. A significant decrease in PAS reaction and a significant increase in collagen fiber content were detected. Immunohistochemical study revealed a significant increase in immunoexpression of PCNA in basal ductal cells coupled with decreased expression in basal acinar cells. Both AR and ER-α immunoexpression was significantly decreased. Minimal alterations were observed upon concomitant treatment with isotretinoin and DHEA as compared to the control group. Topical DHEA could prove to be beneficial in ameliorating isotretinoin-induced Meibomian gland dysfunction most probably through its androgenic effect.
[Mh] Termos MeSH primário: Desidroepiandrosterona/administração & dosagem
Doenças Palpebrais/induzido quimicamente
Doenças Palpebrais/prevenção & controle
Isotretinoína/efeitos adversos
Glândulas Tarsais/efeitos dos fármacos
Glândulas Tarsais/patologia
[Mh] Termos MeSH secundário: Administração Tópica
Albinismo
Animais
Fármacos Dermatológicos/efeitos adversos
Relação Dose-Resposta a Droga
Interações Medicamentosas
Receptor alfa de Estrogênio/metabolismo
Doenças Palpebrais/patologia
Masculino
Glândulas Tarsais/metabolismo
Camundongos
Antígeno Nuclear de Célula em Proliferação/metabolismo
Receptores Androgênicos/metabolismo
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Dermatologic Agents); 0 (Estrogen Receptor alpha); 0 (Proliferating Cell Nuclear Antigen); 0 (Receptors, Androgen); 459AG36T1B (Dehydroepiandrosterone); EH28UP18IF (Isotretinoin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170219
[St] Status:MEDLINE


  7 / 1607 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28119086
[Au] Autor:Sugahara R; Tanaka S; Jouraku A; Shiotsuki T
[Ad] Endereço:National Agriculture and Food Research Organization, Institute of Agrobiological Sciences, 1-2 Ohwashi, Tsukuba, Ibaraki 305-8634, Japan. Electronic address: rsugahara@affrc.go.jp.
[Ti] Título:Two types of albino mutants in desert and migratory locusts are caused by gene defects in the same signaling pathway.
[So] Source:Gene;608:41-48, 2017 Apr 15.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Albinism is caused by mutations in the genes involved in melanin production. Albino nymphs of Locusta migratoria and Schistocerca gregaria reared under crowded conditions are uniformly creamy-white in color. However, nothing is known about the molecular mechanisms underlying this phenomenon in locusts. The albino strain of L. migratoria is known to lack the dark-color-inducing neuropeptide corazonin (Crz). In this study, we report that this albino strain has a 10-base-pair deletion in the gene LmCRZ, which encodes Crz. This mutation was found to cause a frame-shift, resulting in a null mutation in Crz. On the other hand, the albino strain of S. gregaria is known to have an intact Crz. This strain was found to possess a single-nucleotide substitution in the middle of the Crz receptor-encoding gene, SgCRZR, which caused a nonsense mutation, resulting in a truncated receptor. Silencing of SgCRZR in wild-type S. gregaria nymphs greatly reduced the area and intensity of their black patterning, suggesting that the functional defect of SgCRZR likely causes the albinism. The expression level of SgCRZR in the albino S. gregaria was comparable to that in the wild type. Unlike the wild type, the albino strain of this locust did not show a phase-dependent shift in a morphometric trait controlled by Crz. From these results, we conclude that the mutations in LmCRZ and SgCRZR are responsible for the albinism in L. migratoria and S. gregaria, respectively, indicating that the two types of albinism are caused by different genetic defects in the same Crz signaling pathway.
[Mh] Termos MeSH primário: Albinismo/genética
Gafanhotos/genética
Locusta migratoria/genética
Mutação
Pigmentação/genética
[Mh] Termos MeSH secundário: Migração Animal
Animais
Clima Desértico
Gafanhotos/anatomia & histologia
Gafanhotos/classificação
Proteínas de Insetos/genética
Proteínas Mutantes/genética
Neuropeptídeos/genética
Receptores de Neuropeptídeos/genética
Transdução de Sinais/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Insect Proteins); 0 (Mutant Proteins); 0 (Neuropeptides); 0 (Receptors, Neuropeptide); 0 (corazonin receptor); 122984-73-0 (corazonin protein, insect)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170307
[Lr] Data última revisão:
170307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170126
[St] Status:MEDLINE


  8 / 1607 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27634063
[Au] Autor:Abitbol M; Bossé P; Grimard B; Martignat L; Tiret L
[Ad] Endereço:INSERM U955-E10, IMRB, Université Paris-Est Créteil, Ecole Nationale Vétérinaire d'Alfort, 7 Avenue du Général de Gaulle, 94700, Maisons-Alfort, France.
[Ti] Título:Allelic heterogeneity of albinism in the domestic cat.
[So] Source:Anim Genet;48(1):127-128, 2017 Feb.
[Is] ISSN:1365-2052
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Albinismo/genética
Gatos/genética
Cor de Cabelo/genética
[Mh] Termos MeSH secundário: Alelos
Sequência de Aminoácidos
Animais
Masculino
Fenótipo
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170228
[Lr] Data última revisão:
170228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160917
[St] Status:MEDLINE
[do] DOI:10.1111/age.12503


  9 / 1607 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:27595926
[Au] Autor:Nakayama T; Nakajima K; Cox A; Fisher M; Howell M; Fish MB; Yaoita Y; Grainger RM
[Ad] Endereço:Department of Biology, University of Virginia, Charlottesville, VA 22904, USA.
[Ti] Título:no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development.
[So] Source:Dev Biol;426(2):472-486, 2017 06 15.
[Is] ISSN:1095-564X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We describe a novel recessive and nonlethal pigmentation mutant in Xenopus tropicalis. The mutant phenotype can be initially observed in tadpoles after stage 39/40, when mutant embryos display markedly reduced pigmentation in the retina and the trunk. By tadpole stage 50 almost all pigmented melanophores have disappeared. Most interestingly, those embryos fail entirely to make pigmented iridophores. The combined reduction/absence of both pigmented iridophores and melanophores renders these embryos virtually transparent, permitting one to easily observe both the developing internal organs and nervous system; accordingly, we named this mutant no privacy (nop). We identified the causative genetic lesion as occurring in the Xenopus homolog of the human Hermansky-Pudlak Syndrome 6 (HPS6) gene, combining several approaches that utilized conventional gene mapping and classical and modern genetic tools available in Xenopus (gynogenesis, BAC transgenesis and TALEN-mediated mutagenesis). The nop allele contains a 10-base deletion that results in truncation of the Hps6 protein. In humans, HPS6 is one of the genes responsible for the congenital disease HPS, pathological symptoms of which include oculocutaneous albinism caused by defects in lysosome-related organelles required for pigment formation. Markers for melanin-producing neural crest cells show that the cells that would give rise to melanocytes are present in nop, though unpigmented. Abnormalities develop at tadpole stages in the pigmented retina when overall pigmentation becomes reduced and large multi-melanosomes are first formed. Ear development is also affected in nop embryos when both zygotic and maternal hsp6 is mutated: otoliths are often reduced or abnormal in morphology, as seen in some mouse HPS mutations, but to our knowledge not described in the BLOC-2 subset of HPS mutations nor described in non-mammalian systems previously. The transparency of the nop line suggests that these animals will aid studies of early organogenesis during tadpole stages. In addition, because of advantages of the Xenopus system for assessing gene expression, cell biological mechanisms, and the ontogeny of melanosome and otolith formation, this should be a highly useful model for studying the molecular mechanisms underlying the acquisition of the HPS phenotype and the underlying biology of lysosome-related organelle function.
[Mh] Termos MeSH primário: Modelos Animais de Doenças
Síndrome de Hermanski-Pudlak
Mutação
Proteínas de Xenopus/genética
Xenopus/genética
[Mh] Termos MeSH secundário: Albinismo/genética
Animais
Cromossomos Artificiais Bacterianos
Orelha Interna/anormalidades
Feminino
Seres Humanos
Larva/metabolismo
Melaninas/biossíntese
Melanossomas/fisiologia
Mutagênese Sítio-Dirigida
Organogênese
Membrana dos Otólitos/anormalidades
Fenótipo
Pigmentação/genética
Deleção de Sequência
Xenopus/embriologia
Proteínas de Xenopus/deficiência
Proteínas de Xenopus/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Melanins); 0 (Xenopus Proteins); 0 (hps6 protein, Xenopus)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171110
[Lr] Data última revisão:
171110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160907
[St] Status:MEDLINE


  10 / 1607 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:26993591
[Au] Autor:Ratzan W; Falco R; Salanga C; Salanga M; Horb ME
[Ad] Endereço:National Xenopus Resource and Eugene Bell Center for Regenerative Biology and Tissue Engineering, Marine Biological Laboratory, Woods Hole, MA 02543, USA.
[Ti] Título:Generation of a Xenopus laevis F1 albino J strain by genome editing and oocyte host-transfer.
[So] Source:Dev Biol;426(2):188-193, 2017 06 15.
[Is] ISSN:1095-564X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Completion of the Xenopus laevis genome sequence from inbred J strain animals has facilitated the generation of germline mutant X. laevis using targeted genome editing. In the last few years, numerous reports have demonstrated that TALENs are able to induce mutations in F0 Xenopus embryos, but none has demonstrated germline transmission of such mutations in X. laevis. In this report we used the oocyte host-transfer method to generate mutations in both tyrosinase homeologs and found highly-penetrant germline mutations; in contrast, embryonic injections yielded few germline mutations. We also compared the distribution of mutations in several F0 somatic tissues and germ cells and found that the majority of mutations in each tissue were different. These results establish that X. laevis J strain animals are very useful for generating germline mutations and that the oocyte host-transfer method is an efficient technique for generating mutations in both homeologs.
[Mh] Termos MeSH primário: Albinismo/genética
Edição de Genes
Mutação em Linhagem Germinativa
Monofenol Mono-Oxigenase/genética
Proteínas de Xenopus/genética
Xenopus laevis/genética
[Mh] Termos MeSH secundário: Animais
Sequência de Bases
Cruzamentos Genéticos
Embrião não Mamífero
Feminino
Masculino
Microinjeções
Monofenol Mono-Oxigenase/deficiência
Mosaicismo
Oócitos/transplante
Penetrância
RNA Mensageiro/administração & dosagem
RNA Mensageiro/genética
Alinhamento de Sequência
Homologia de Sequência do Ácido Nucleico
Nucleases dos Efetores Semelhantes a Ativadores de Transcrição/genética
Proteínas de Xenopus/deficiência
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (RNA, Messenger); 0 (Xenopus Proteins); EC 1.14.18.1 (Monophenol Monooxygenase); EC 3.1.- (Transcription Activator-Like Effector Nucleases)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171110
[Lr] Data última revisão:
171110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160320
[St] Status:MEDLINE



página 1 de 161 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde