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Journal of Applied Genetics

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https://www.readbyqxmd.com/read/29151245/hearing-impairment-caused-by-mutations-in-two-different-genes-responsible-for-nonsyndromic-and-syndromic-hearing-loss-within-a-single-family
#1
Katarzyna Niepokój, Agnieszka M Rygiel, Piotr Jurczak, Aleksandra A Kujko, Dominika Śniegórska, Justyna Sawicka, Alicja Grabarczyk, Jerzy Bal, Katarzyna Wertheim-Tysarowska
Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic...
November 18, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29147913/expression-of-tlr7-tlr9-jak2-and-stat3-genes-in-peripheral-blood-mononuclear-cells-from-patients-with-systemic-sclerosis
#2
Miša Vreća, Ana Zeković, Nemanja Damjanov, Marina Andjelković, Milena Ugrin, Sonja Pavlović, Vesna Spasovski
Systemic sclerosis (SSc) is a rare, chronic, multisystem autoimmune disease clinically characterized by progressive fibrosis of the skin and internal organs. The basic mechanism appears to involve endothelial cell injury, overproduction of extracellular matrix proteins, and aberrant immune activation. So far, there have been a few attempts to find genetic biomarkers for monitoring disease activity or for correlation with certain symptoms. In order to reveal reliable biomarkers, we analyzed the expression of four genes representing three important signaling pathways, TLR7, TLR9, and JAK2-STAT3...
November 16, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29047053/mild-zellweger-syndrome-due-to-a-novel-pex6-mutation-correlation-between-clinical-phenotype-and-in-silico-prediction-of-variant-pathogenicity
#3
Małgorzata Rydzanicz, Teresa Joanna Stradomska, Elżbieta Jurkiewicz, Ewa Jamroz, Piotr Gasperowicz, Grażyna Kostrzewa, Rafał Płoski, Anna Tylki-Szymańska
Zellweger syndrome (ZS) is a consequence of a peroxisome biogenesis disorder (PBD) caused by the presence of a pathogenic mutation in one of the 13 genes from the PEX family. ZS is a severe multisystem condition characterized by neonatal appearance of symptoms and a shorter life. Here, we report a case of ZS with a mild phenotype, due to a novel PEX6 gene mutation. The patient presented subtle craniofacial dysmorphic features and slightly slower psychomotor development. At the age of 2 years, he was diagnosed with adrenal insufficiency, hypoacusis, and general deterioration...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29019057/duplication-of-yq-and-proximal-yp-arms-with-deletion-of-almost-all-par1-including-shox-in-a-young-man-with-non-obstructive-azoospermia-short-stature-and-skeletal-defects
#4
Dino Cancemi, Alessandra Iannuzzi, Angela Perucatti, Luigi Montano, Oronzo Capozzi, Carmine Spampanato, Maria Luisa Ventruto, Maria Urciuoli, Leopoldo Iannuzzi, Valerio Ventruto
Duplications of Yq arm (and AZF) seems to be tolerated by fertile males, while mutations, deletions, duplications or haploinsufficiency of SHOX can originate a wide range of phenotypes, including short stature and skeletal abnormalities. We report a case of non-obstructive azoospermia in a young man with short stature, skeletal anomalies, normal intelligence and hormonal parameters. This male showed a very singular Y-chromosome aberration, consisting of a duplication of Yq and proximal regions of Yp, with a deletion of almost all PAR1 in Yptel, including SHOX...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28988364/genetic-parameters-for-growth-performance-fillet-traits-and-fat-percentage-of-male-nile-tilapia-oreochromis-niloticus
#5
André Luiz Seccatto Garcia, Carlos Antonio Lopes de Oliveira, Hanner Mahmud Karim, César Sary, Humberto Todesco, Ricardo Pereira Ribeiro
Improvement of fillet traits and flesh quality attributes are of great interest in farmed tilapia and other aquaculture species. The main objective of this study was to estimate genetic parameters for fillet traits (fillet weight and fillet yield) and the fat content of fillets from 1136 males combined with 2585 data records on growth traits (body weight at 290 days, weight at slaughter, and daily weight gain) of 1485 males and 1100 females from a third generation of the Aquaamerica tilapia strain. Different models were tested for each trait, and the best models were used to estimate genetic parameters for the fat content, fillet, and growth traits...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28986737/assessing-the-degree-of-stratification-between-closely-related-holstein-friesian-populations
#6
Joanna Szyda, Tomasz Suchocki, Saber Qanbari, Zengting Liu, Henner Simianer
Genomic information is an important part of the routine evaluation of dairy cattle and provides the wide availability of animals genotyped using single nucleotide polymorphism (SNP) microarrays. We analyzed 2243 Polish and 2294 German Holstein-Friesian bulls genotyped using the Illumina BovineSNP50 BeadChip. For each bull, estimated breeding values (EBVs) calculated from national routine genetic evaluation were available for production traits and for somatic cell score (SCS). Separately for each population, we estimated SNP haplotypes, pairwise linkage disequilibrium (LD), and SNP effects...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28980200/genetic-analysis-of-a-red-tilapia-oreochromis-spp-population-undergoing-three-generations-of-selection-for-increased-body-weight-at-harvest
#7
Azhar Hamzah, Ngo Phu Thoa, Nguyen Hong Nguyen
Quantitative genetic analysis was performed on 10,919 data records collected over three generations from the selection programme for increased body weight at harvest in red tilapia (Oreochromis spp.). They were offspring of 224 sires and 226 dams (50 sires and 60 dams per generation, on average). Linear mixed models were used to analyse body traits (weight, length, width and depth), whereas threshold generalised models assuming probit distribution were employed to examine genetic inheritance of survival rate, sexual maturity and body colour...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28971377/microrna-expression-profiling-in-alveolar-macrophages-of-indigenous-chinese-tongcheng-pigs-infected-with-prrsv-in-vivo
#8
Xiang Zhou, Jennifer J Michal, Zhihua Jiang, Bang Liu
Porcine respiratory and reproductive syndrome (PRRS), caused by PRRS virus (PRRSV), is one of the most serious infectious diseases in the swine industry worldwide. Indigenous Chinese Tongcheng (TC) pigs reportedly show strong resistance to PRRSV infection. The miRNA expression profiles of porcine alveolar macrophages (PAMs) of control TC pigs and those infected with PRRSV in vivo were analyzed by high-throughput sequencing to explore changes induced by infection. A total of 182 known miRNAs including 101 miRNA-5p and 81 miRNA-3p were identified with 23 up-regulated differentially expressed miRNAs (DEmiRNAs) and 25 down-regulated DEmiRNAs...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28963714/clinical-interpretation-of-copy-number-variants-in-the-human-genome
#9
REVIEW
Beata Nowakowska
Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years. Despite this, some CNVs continue to be a huge challenge when it comes to clinical interpretation. CNVs are an important source of normal and pathogenic variants, but, in many cases, their impact on human health depends on factors that are not yet known. Therefore, perception of their clinical consequences can change over time, as our knowledge grows...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28933030/phenotype-comparison-confirms-zmynd11-as-a-critical-gene-for-10p15-3-microdeletion-syndrome
#10
Birute Tumiene, Ž Čiuladaitė, E Preikšaitienė, R Mameniškienė, A Utkus, V Kučinskas
Proper epigenetic regulation processes are crucial in the normal development of the human brain. An ever-increasing group of neurodevelopmental disorders due to derangements of epigenetic regulation involve both microdeletion and monogenic syndromes. Some of these syndromes have overlapping clinical phenotypes due to haploinsufficiency-sensitive genes involved in microdeletions. It was shown recently that the ZMYND11 gene has important functions in epigenetic regulation as an unconventional transcription co-repressor of highly expressed genes, possibly acting in the repression of cryptic transcription from gene bodies...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28890999/a-genome-wide-association-study-identifies-genomic-loci-associated-with-backfat-thickness-carcass-weight-and-body-weight-in-two-commercial-pig-populations
#11
Yuanmei Guo, Hengqing Qiu, Shijun Xiao, Zhenfang Wu, Ming Yang, Jie Yang, Jun Ren, Lusheng Huang
Growth and fatness traits are economically important in the pig industry. To dissect the genetic architecture of these traits in commercial pigs, we conducted a genome-wide association study (GWAS) for carcass weight, backfat thickness, and body weight in two commercial populations: Duroc × (Landrace × Yorkshire) (DLY) and Duroc populations. To enhance the detection power, three GWAS approaches including single-trait GWAS, multi-trait GWAS and meta-analysis were used in this study. A total of 13 suggestive loci were identified on nine chromosomes...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28887804/identification-of-major-quantitative-trait-loci-for-root-diameter-in-synthetic-hexaploid-wheat-under-phosphorus-deficient-conditions
#12
Fangkun Wu, Xilan Yang, Zhiqiang Wang, Mei Deng, Jian Ma, Guoyue Chen, Yuming Wei, Yaxi Liu
Synthetic hexaploid wheat (SHW) possesses numerous genes for resistance to stress, including phosphorus (P) deficiency. Root diameter (RDM) plays an important role in P-deficiency tolerance, but information related to SHW is still limited. Thus, the objective of this study was to investigate the genetic architecture of RDM in SHW under P-deficient conditions. To this end, we measured the RDM of 138 F9 recombinant inbred lines derived from an F2 population of a synthetic hexaploid wheat line (SHW-L1) and a common wheat line (Chuanmai32) under two P conditions, P sufficiency (PS) and P deficiency (PD), and mapped quantitative trait loci (QTL) for RDM using an enriched high-density genetic map, containing 120,370 single nucleotide polymorphisms, 733 diversity arrays technology markers, and 119 simple sequence repeats...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28812223/prognostic-potential-of-klotho-and-sfrp1-promoter-methylation-in-head-and-neck-squamous-cell-carcinoma
#13
Abeer A Alsofyani, Rawiah A Alsiary, Alaa Samkari, Baraa T Alhaj-Hussain, Jalaluddin Azam Khan, Jaudah Al-Maghrabi, Aisha Elaimi, Mohammed H Al-Qahtani, Adel M Abuzenadah, Ashraf Dallol
Hypermethylation in the CpG island promoter regions of tumor suppressors is known to play a significant role in the development of HNSCC and the detection of which can aid the classification and prognosis of HNSCC. This study aims to profile the methylation patterns in a panel of key genes including CDKN2A, CDKN2B, KLOTHO (KL), RASSF1A, RARB, SLIT2, and SFRP1, in a group of HNSCC samples from Saudi Arabia. The extent of methylation in these genes is determined using the MethyLight assay and correlated with known clinicopathological parameters in our samples of 156 formalin-fixed and paraffin-embedded HNSCC tissues...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28779288/abiotic-stresses-influence-the-transcript-abundance-of-pip-and-tip-aquaporins-in-festuca-species
#14
Izabela Pawłowicz, Marcin Rapacz, Dawid Perlikowski, Krzysztof Gondek, Arkadiusz Kosmala
Festuca arundinacea and F. pratensis are the models in forage grasses to recognize the molecular basis of drought, salt and frost tolerance, respectively. Transcription profiles of plasma membrane intrinsic proteins (PIPs) and tonoplast intrinsic proteins (TIPs) aquaporin genes were obtained for leaves of Festuca species treated with different abiotic stimuli. F. arundinacea plants were exposed to drought and salt stress, whereas F. pratensis plants were cold-hardened. Changes in genes expression measured with use of real time qRT-PCR method were compared between two genotypes characterized with a significantly different level of each stress tolerance...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28685384/reorganization-of-gene-network-for-degradation-of-polycyclic-aromatic-hydrocarbons-pahs-in-pseudomonas-aeruginosa-pao1-under-several-conditions
#15
Shaomin Yan, Guang Wu
Although polycyclic aromatic hydrocarbons (PAHs) are harmful to human health, their elimination from the environment is not easy. Biodegradation of PAHs is promising since many bacteria have the ability to use hydrocarbons as their sole carbon and energy sources for growth. Of various microorganisms that can degrade PAHs, Pseudomonas aeruginosa is particularly important, not only because it causes a series of diseases including infection in cystic fibrosis patients, but also because it is a model bacterium in various studies...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28624900/the-cre-inducer-doxycycline-lowers-cytokine-and-chemokine-transcript-levels-in-the-gut-of-mice
#16
Axel Kornerup Hansen, Sara Astrup Malm, Stine B Metzdorff
The antibiotic doxycycline is used as an inducer of recombinase (cre)-based conditional gene knockout in mice, which is a common tool to show the effect of disrupted gene functions only in one period of a research animal's life. However, other types of such antibiotics have been shown to have a strong impact on the immune system. Here we show that in C57BL/6 mice, the most commonly applied strain for genetic modification, doxycycline treatment lowered transcription of the genes Il1b, Il10, Il18, Tnf, Cxcl1, and Cxcl2 in the ileum, and of the gene Il18 in colon...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28342159/genetic-aspects-of-feed-efficiency-and-reduction-of-environmental-footprint-in-broilers-a-review
#17
REVIEW
Ewa Sell-Kubiak, Klaus Wimmers, Henry Reyer, Tomasz Szwaczkowski
Currently, optimization of feed efficiency is one of the main challenges in improvement programs of livestock and poultry genetics. The objective of this review is to present the genetic aspects of feed efficiency related traits in meat-type chicken and possible ways to reduce the environmental impact of poultry meat production with effective breeding. Basic measures of feed efficiency are defined and the genetic background of these traits, including a review of heritabilities is described. Moreover, a number of genomic regions and candidate genes determining feed efficiency traits of broilers that were detected over the past decades are described...
November 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28577124/association-mapping-to-discover-significant-marker-trait-associations-for-resistance-against-fusarium-wilt-variant-2-in-pigeonpea-cajanus-cajan-l-millspaugh-using-ssr-markers
#18
Prakash G Patil, Jyotirmay Dubey, Abhishek Bohra, R K Mishra, P R Saabale, Alok Das, Meenal Rathore, N P Singh
Pigeonpea production is severely constrained by wilt disease caused by Fusarium udum. In the current study, we discover the putative genomic regions that control resistance response to variant 2 of fusarium wilt using association mapping approach. The association panel comprised of 89 diverse pigeonpea genotypes including seven varieties, three landraces and 79 germplasm lines. The panel was screened rigorously for 3 consecutive years (2013-14, 2014-15 and 2015-2016) against variant 2 in a wilt-sick field...
August 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28534314/rapid-molecular-sexing-of-three-spined-sticklebacks-gasterosteus-aculeatus-l-based-on-large-y-chromosomal-insertions
#19
Theo C M Bakker, Thomas Giger, Joachim G Frommen, Carlo R Largiadèr
There is a need for rapid and reliable molecular sexing of three-spined sticklebacks, Gasterosteus aculeatus, the supermodel species for evolutionary biology. A DNA region at the 5' end of the sex-linked microsatellite Gac4202 was sequenced for the X chromosome of six females and the Y chromosome of five males from three populations. The Y chromosome contained two large insertions, which did not recombine with the phenotype of sex in a cross of 322 individuals. Genetic variation (SNPs and indels) within the insertions was smaller than on flanking DNA sequences...
August 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28493051/erratum-to-genetic-analysis-of-four-european-huchen-hucho-hucho-linnaeus-1758-broodstocks-from-poland-germany-slovakia-and-ukraine-implication-for-conservation
#20
M Kucinski, D Fopp-Bayat, T Liszewski, V W Svinger, I Lebeda, R Kolman
No abstract text is available yet for this article.
August 2017: Journal of Applied Genetics
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