Genome typing of nonhuman primate models: implications for biomedical research

Haus, Tanja; Ferguson, Betsy; Rogers, Jeffrey; Doxiadis, Gaby G. M.; Certa, Ulrich; Rose, Nicola J.; Teepe, Robert; Weinbauer, Gerhard F.; Roos, Christian

doi:10.1016/j.tig.2014.05.004

Cited by 58 publications

(33 citation statements)

References 59 publications

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“…The successful identification of genetic polymorphisms in the LDLR gene of the hyporesponder cynomolgus macaque suggests a link between genetic variation and the nature of response to the atherogenic diet, although it still requires further confirmation of using more number of hyporesponder animals and an explanation of its underlying mechanism. This supports an important principle in animal modeling that common genetic variations in experimental animals can influence the results of biomedical experiments (Haus et al, 2014).…”

Section: Genetic Variationsupporting

confidence: 69%

GENETIC VARIATION OF cDNA OF LDLR GENE IN HYPORESPONDER CYNOMOLGUS MACAQUES (Macaca fascicularis)

Taher¹,

Solihin

Sulistiyani

et al. 2017

J Kedokt Hewan

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The study aimed to identify genetic variation of cDNA sequence from low density lipoprotein receptor (LDLR) gene of hyporesponder cynomolgus macaques. The animal used in this study was one hyporesponder cynomolgus macaque obtained from selection result in Primate Research Center-Bogor Institute of Agriculture (PSSP IPB). Amplification of cDNA from LDLR gene was performed using polymerase chain reaction (PCR) method with 4 pairs of walking primer. Alignment of amplification result sequence from 4 pairs of walking primer generated target sequence of 2353 bp which located on position 188-2540. Analysis of target sequence alignment on reference sequence in GenBank found 8 single nucleotide polymorphism (SNP), namely c408C>T; c.dan 2377G>A) caused changing of amino acids composition namely p.K602E (lysine → glutamate) and p.V793I (valine → isoleucine). This result proved the potential use of genetic variation of cDNA sequence from LDLR gene as genetic marker for selection of hyporesponder cynomolgus macaques. ____________________________________________________________________________________________________________________

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Section: Genetic Variationsupporting

confidence: 69%

GENETIC VARIATION OF cDNA OF LDLR GENE IN HYPORESPONDER CYNOMOLGUS MACAQUES (Macaca fascicularis)

Taher¹,

Solihin

Sulistiyani

et al. 2017

J Kedokt Hewan

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“…Thus, prospective studies can be performed on these animals using a ligature‐induced model of disease to assess the interactions of the microbiome and host responses during the initiation and progression of periodontitis to better understand these factors as explanatory variables in disease extent and severity in the human population. Furthermore, recent studies have demonstrated similarities and overlap in SNPs between humans and macaques, as well as clear epigenetic evidence for altered biological functions in these nonhuman primates . Thus, this model may also provide access to a better understanding of the genetic contributors to periodontitis susceptibility.…”

Section: Discussionmentioning

confidence: 95%

Periodontal disease susceptible matrilines in the Cayo Santiago Macaca mulatta macaques

Ebersole

Orraca

Kensler

et al. 2018

J of Periodontal Research

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Objective and Background: The expression of periodontitis, including age of onset, extent, and severity is considered to represent an interaction of the individual's oral microbiome and host response to the microbial challenge that is modified by both genetics and environmental factors. The aim of this study was to determine the distribution of periodontitis in a population of nonhuman primates, to document features of familial distribution that could reflect heritability and transmission of microbes with enhanced virulence. Material and Methods:This report presents our findings from evaluation of periodontal disease bone defects in skulls from 569 animals (5-31 years of age) derived from the skeletons of the rhesus monkeys (Macaca mulatta) of Cayo Santiago derived from eight matrilines over 6-9 generations. The distance from the base of alveolar bone to the cemento-enamel junction on 1 st /2 nd premolars and 1 st /2 nd molars from all four quadrants was evaluated as a measure of periodontal disease. Additionally, we documented the presence of periodontitis in 79 living descendants within these matrilines. Results:The results demonstrated an increased extent and severity of periodontitis with aging across all matrilines. Extensive heterogeneity in disease expression was observed among the animals and this was linked to specific periodontitis susceptible matrilines. Moreover, we identified some matrilines in which the members appeared to show some resistance to more severe disease, even with aging. Conclusion:Linking these disease variations to multigenerational matriarchal family units supported familial susceptibility of periodontitis. This familial disease relationship was reinforced by the distribution of naturally-occurring periodontitis in the living descendants. K E Y W O R D S familial risk, nonhuman primates, periodontitis | 135 EBERSOLE Et aL.

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“…Perbandingan genomik (comparative genomics) yang lebih ekstensif harus dilakukan antara genom manusia dan primate non-manusia supaya mendapatkan informasi lebih valid untuk mengurangi noise latar belakang genetic (Haus et al, 2014) . Pada akhirnya, penggunaan metode prediksi gen yang lebih akurat dan efisien dibanding yang disediakan oleh Refseq/ GenBank memang harus diutamakan untuk anotasi gen yang lebih baik (Hoff dan Stanke 2013;Souvorov et al, 2010) …”

Section: Pembahasanunclassified

Bioinformatics Approach towards Transcriptomics of Filaggrin

Anurogo¹,

Parikesit²

2016

AMS

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AbstrakFilaggrin, atau filamen yang menggabungkan protein, adalah salah satu protein struktural penting yang berfungsi untuk pengembangan, pemeliharaan, dan pembentukkan kulit sebagai penghalang utuh. Produk breakdown filaggrin mengatur hidrasi kulit; berkontribusi pada pH asam dari kulit, yang pada gilirannya sangat penting untuk aktivitas berbagai protease stratum korneum dalam deskuamasi dan sintesis lipid. Filaggrin diproduksi oleh keratinosit granular sebagai prekursor besar yang disebut profilaggrin, yang disandikan oleh gen FLG, terletak di kompleks diferensiasi epidermal pada kromosom 1 (lokus 1q21). Lokus tersebut berisi sekelompok gen yang terlibat dalam diferensiasi epidermal. Kekurangan filaggrin memiliki beberapa konsekuensi pada organisasi dan fungsi epidermal dengan implikasi penting seperti risiko yang lebih tinggi untuk penyakit atopik atau infeksi mikroba. Mutasi FLG, gen yang mengkodekan filaggrin, telah terbukti menyebabkan ichthyosis vulgaris, meningkatkan risiko dermatitis atopik dan penyakit atopik lain. Kajian ini meneliti gen FLG berdasarkan pendekatan bioinformatika untuk mencari conserved region dari perwakilan mamalia yang menyandikan coding (m) dan non coding (nc) RNA. Diharapkan ekspresi mRNA dapat digunakan sebagai agen diagnostik dan terapetik terhadap defisiensi dan mutasi filaggrin.Kata kunci: filaggrin, FLG, profilaggrin, defisiensi filaggrin, bioinformatika. AbstractFilaggrin, or filaments which combines protein, is one of the important structural protein that works for the development, maintenance, and the formation of the skin as an intact barrier. Filaggrin breakdown products regulate the hydration of the skin; contribute to the acidic pH of the skin, which in turn is essential for the activity of various proteases in the stratum corneum desquamation and lipid synthesis. Filaggrin produced by keratinocytes granular as a major precursor called profilaggrin, encoded by the FLG gene, located in the epidermal differentiation complex on chromosome 1 (1q21 locus). The locus contains a group of genes involved in epidermal differentiation. Filaggrin deficiency has some consequences on the organization and function of epidermal with important implications such as increased risk for atopic disease or a microbial infection. FLG mutation, a gene that encodes filaggrin, has been shown to cause ichthyosis vulgaris, increasing the risk of atopic dermatitis and other atopic diseases. This research examined the FLG gene based bioinformatics approach to search for conserved region of representative mammals that encode coding (m) and non-coding (nc) RNAs. Expected mRNA expression can be used as a diagnostic and therapeutic agent against deficiencies and filaggrin mutations.

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Genome typing of nonhuman primate models: implications for biomedical research

Cited by 58 publications

References 59 publications

GENETIC VARIATION OF cDNA OF LDLR GENE IN HYPORESPONDER CYNOMOLGUS MACAQUES (Macaca fascicularis)

GENETIC VARIATION OF cDNA OF LDLR GENE IN HYPORESPONDER CYNOMOLGUS MACAQUES (Macaca fascicularis)

Periodontal disease susceptible matrilines in the Cayo Santiago Macaca mulatta macaques

Bioinformatics Approach towards Transcriptomics of Filaggrin

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