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"Chromosome 18"

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https://www.readbyqxmd.com/read/29230835/genetic-contributions-to-precocity-traits-in-racing-thoroughbreds
#1
G Farries, P A McGettigan, K F Gough, B A McGivney, D E MacHugh, L M Katz, E W Hill
Adaptation to early training and racing (i.e. precocity), which is highly variable in racing Thoroughbreds, has implications for the selection and training of horses. We hypothesised that precocity in Thoroughbred racehorses is heritable. Age at first sprint training session (work day), age at first race and age at best race were used as phenotypes to quantify precocity. Using high-density SNP array data, additive SNP heritability (hSNP2) was estimated to be 0.17, 0.14 and 0.17 for the three traits respectively...
December 12, 2017: Animal Genetics
https://www.readbyqxmd.com/read/29200313/effect-of-single-nucleotide-polymorphisms-in-igfbp2-and-igfbp3-genes-on-litter-size-traits-in-berkshire-pigs
#2
Sang Mi An, Jung Hye Hwang, Seulgi Kwon, Go Eun Yu, Da Hye Park, Deok Gyeong Kang, Tae Wan Kim, Hwa Chun Park, Jeongim Ha, Chul Wook Kim
Litter size is among the most important traits in swine breeding. However, information on the genetics of litter size in pigs is lacking. In this study, we identified single nucleotide polymorphisms (SNPs) in the insulin-like growth factor binding protein 2 and 3 (IGFBP2 and IGFBP3) genes in Berkshire pigs and analyzed their association with litter size traits. The IGFBP2 SNP was located on chromosome 15 intron 2 (455, A > T) and the IGFBP3 SNP was on chromosome 18 intron 2 (53, A > G). The AT type of IGFBP2 and the GG type of IGFBP3 had the highest values for all litter size traits including total number born (TNB), number of pigs born alive, and breeding value according to TNB...
December 4, 2017: Animal Biotechnology
https://www.readbyqxmd.com/read/29188622/-two-false-negative-cases-in-noninvasive-prenatal-testing-for-fetal-chromosomal-aneuploidies
#3
Ping Wen, Ying Xue, Qin Zhang, Qing Liang, Qiong Li, Haibo Li, Jie Ding, Hong Li, Ting Wang
OBJECTIVE: To explore the limitation of non-invasive prenatal testing (NIPT) technique through analyzing two false negative cases. METHODS: Chromosomal karyotyping analysis was performed on umbilical cord blood sample derived from case 1 at 24 weeks' gestation and peripheral blood sample derived from the neonate of case 2. Placental tissues of case 1 and peripheral blood sample of case 2 were also analyzed by high-throughput sequencing for copy number variations (CNVs)...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29142771/a-peruvian-child-with-18p-18q-syndrome-and-persistent-microscopic-hematuria
#4
Julio A Poterico, Flor Vásquez, Miguel Chávez-Pastor, Milana Trubnykova, Félix Chavesta, Jenny Chirinos, Nancy Salcedo, Rosmery Mena, Sulema Cubas, Rocío González, Rossana Alvariño, Hugo Abarca-Barriga
Chromosome 18 pericentric inversion carriers could have offspring with recombinant chromosomes, leading to patients with clinical variable manifestations. Patients with 18p-/18q+ rearrangements share some clinical characteristics, while other characteristics differ. Factors for such divergence include the length of the inverted segment, among others. Here, we describe a Peruvian child with dysmorphic features, intellectual disability persistent microscopic hematuria, aortic pseudocoarctation, and descending aorta arteritis, among others...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29115939/genome-wide-association-studies-and-genomic-prediction-of-breeding-values-for-calving-performance-and-body-conformation-traits-in-holstein-cattle
#5
Mohammed K Abo-Ismail, Luiz F Brito, Stephen P Miller, Mehdi Sargolzaei, Daniela A Grossi, Steve S Moore, Graham Plastow, Paul Stothard, Shadi Nayeri, Flavio S Schenkel
BACKGROUND: Our aim was to identify genomic regions via genome-wide association studies (GWAS) to improve the predictability of genetic merit in Holsteins for 10 calving and 28 body conformation traits. Animals were genotyped using the Illumina Bovine 50 K BeadChip and imputed to the Illumina BovineHD BeadChip (HD). GWAS were performed on 601,717 real and imputed single nucleotide polymorphism (SNP) genotypes using a single-SNP mixed linear model on 4841 Holstein bulls with breeding value predictions and followed by gene identification and in silico functional analyses...
November 7, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/29093756/a-case-of-placental-trisomy-18-mosaicism-causing-a-false-negative-nipt-result
#6
Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin Oy, Aihua Yin
Background: The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a result of its increased sensitivity and specificity. However, false positive and false negative results still exist. Case presentation: We presented a case in which the non-invasive prenatal testing results were normal at 15 gestational age (GA), but an ultrasound examination at 30GA showed that the fetus had heart abnormalities, and the third trimester ultrasound at 33GA noted multiple anomalies including a 3...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29072700/the-spontaneous-differentiation-and-chromosome-loss-in-ipscs-of-human-trisomy-18-syndrome
#7
Ting Li, Hanzhi Zhao, Xu Han, Jiaying Yao, Lingling Zhang, Ying Guo, Zhen Shao, Ying Jin, Dongmei Lai
Aneuploidy including trisomy results in developmental disabilities and is the leading cause of miscarriages in humans. Unlike trisomy 21, pathogenic mechanisms of trisomy 18 remain unclear. Here, we successfully generated induced pluripotent stem cells (iPSCs) from human amniotic fluid cells (AFCs) with trisomy 18 pregnancies. We found that trisomy 18 iPSCs (18T-iPSCs) were prone to differentiate spontaneously. Intriguingly, 18T-iPSCs lost their extra 18 chromosomes and converted to diploid cells after 10 generations...
October 26, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29038103/large-genomic-rearrangements-of-desmosomal-genes-in-italian-arrhythmogenic-cardiomyopathy-patients
#8
Kalliopi Pilichou, Elisabetta Lazzarini, Ilaria Rigato, Rudy Celeghin, Marzia De Bortoli, Marina Perazzolo Marra, Marco Cason, Jan Jongbloed, Martina Calore, Stefania Rizzo, Daniela Regazzo, Giulia Poloni, Sabino Iliceto, Luciano Daliento, Pietro Delise, Domenico Corrado, J Peter Van Tintelen, Gaetano Thiene, Alessandra Rampazzo, Cristina Basso, Barbara Bauce, Alessandra Lorenzon, Gianluca Occhi
BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease associated with point mutations in genes encoding for cardiac desmosome proteins. Conventional mutation screening is positive in ≈50% of probands. Copy number variations (CNVs) have recently been linked to AC pointing to the need to determine the prevalence of CNVs in desmosomal genes and to evaluate disease penetrance by cosegregation analysis in family members. METHODS AND RESULTS: A total of 160 AC genotype-negative probands for 5 AC desmosomal genes by conventional mutation screening underwent multiplex ligation-dependent probe amplification...
October 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29036626/detection-of-an-underlying-22q11-2-duplication-in-a-female-neonate-with-trisomy-18
#9
Donald E Turbiville, Hai Wu, Jianli Dong
Current guidelines indicate that in patients with developmental disabilities or congenital anomalies, chromosomal microarray (CMA) is a first-tier diagnostic test. However, for patients with obvious chromosomal syndromes such as trisomy 13, 18, and 21, G-banded karyotyping is still recommended over CMA for establishing a diagnosis. In the case presented herein, a female neonate was suspected of having trisomy 18 based on pre- and postnatal evaluations. Karyotyping was requested but not performed due to insufficient cell growth; Interphase fluorescence in situ hybridization (i-FISH) found an extra copy of chromosome 18...
November 8, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/28984869/bcl2-and-mir-15-16-from-gene-discovery-to-treatment
#10
REVIEW
Yuri Pekarsky, Veronica Balatti, Carlo M Croce
In 1984, we investigated the t(14;18) chromosomal translocations that frequently occur in patients with follicular lymphoma. We first identified a locus on chromosome 18 involved in these translocations with the chromosome 14 containing the immunoglobulin heavy chain locus. Within this region on chromosome 18, we then discovered a gene that we called BCL2, which was activated by the translocations. Since that time, many studies determined that BCL2 is one of the most important oncogenes involved in cancer by inhibiting apoptosis...
October 6, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28981949/-result-of-prenatal-diagnosis-for-151-high-risk-women-by-noninvasive-prenatal-screening-based-on-high-throughput-sequencing
#11
Yifang Jia, Yan Zhang, Wanxiao Hao, Donghong Shi, Jinlai Meng, Heyong Zhao, Yan Lian, Luwen Xie, Xietong Wang
OBJECTIVE: To assess the value of combined fetal karyotyping and chromosomal microarray analysis (CMA) for the verification of high-risk pregnancy signaled by noninvasive prenatal screening (NIPS) based on high-throughput sequencing. METHODS: One hundred and fifty-one pregnant women with high risks for aneuploidies of chromosomes 13, 18, 21, X and Y or pathological copy number variations (CNVs) by NIPS were subjected to amniocytic karyotyping and CMA analysis. RESULTS: One hundred and forty-two women were found to have a high risk for fetal chromosomal aneuploidies, which included 83 cases of trisomy 21, 17 cases of trisomy 18, 2 cases of trisomy 13, and 40 cases of sex chromosome aneuploidies...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28956606/why-are-the-correlations-between-mrna-and-protein-levels-so-low-among-the-275-predicted-protein-coding-genes-on-human-chromosome-18
#12
Ekaterina V Poverennaya, Ekaterina V Ilgisonis, Elena A Ponomarenko, Arthur T Kopylov, Victor G Zgoda, Sergey P Radko, Andrey V Lisitsa, Alexander I Archakov
In this work targeted (selected reaction monitoring, SRM, PASSEL: PASS00697) and panoramic (shotgun LC-MS/MS, PRIDE: PXD00244) mass-spectrometric methods as well as transcriptomic analysis of the same samples using RNA-Seq and PCR methods (SRA experiment IDs: SRX341198, SRX267708, SRX395473, SRX390071) were applied for quantification of chromosome 18 encoded transcripts and proteins in human liver and HepG2 cells. The obtained data was used for the estimation of quantitative mRNA-protein ratios for the 275 genes of the selected chromosome in the selected tissues...
October 27, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28942442/evolutionary-relationships-among-boulengerella-species-ctenoluciidae-characiformes-genomic-organization-of-repetitive-dnas-and-highly-conserved-karyotypes
#13
José F de Souza E Sousa, Patrik F Viana, Luiz A C Bertollo, Marcelo B Cioffi, Eliana Feldberg
Ctenoluciidae is a Neotropical freshwater fish family whose representatives are known as bicudas. The genus Boulengerella contains 5 species, and 4 of them (B. cuvieri, B. lateristriga, B. lucius, and B. maculata) were cytogenetically analyzed in the present study by conventional and molecular procedures. All 4 species have a very similar karyotype, with 2n = 36 chromosomes (14 metacentrics + 16 submetacentrics + 6 subtelocentrics; FN = 72). However, the heterochromatin distribution pattern is species-specific...
September 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28935228/frequencies-of-the-precision-id-ancestry-panel-markers-in-basques-using-the-ion-torrent-pgm-tm-platform
#14
O García, J A Ajuriagerra, A Alday, S Alonso, J A Pérez, A Soto, I Uriarte, I Yurrebaso
The Precision ID Ancestry Panel for the Ion Torrent PGM™ platform is able to genotype 165 autosomal SNPs by massively parallel sequencing (MPS). In the present study, we evaluated the depth of coverage, the locus strand balance and the heterozygote balance of the above panel. The SNPs rs1569175, rs2306040, rs9845457, rs1407434, and rs10007810 showed a low performance, due either to a low coverage, locus strand imbalance or heterozygote imbalance. To further to assess this panel, we analyzed 108 Basques. All loci proved to be in Hardy-Weinberg equilibrium and we did not detect any association between them with the exception of the pair rs3916235-rs4891825 in chromosome 18...
September 12, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28924540/analysis-of-meiotic-segregation-patterns-and-interchromosomal-effects-in-sperm-from-13-robertsonian-translocations
#15
B Wang, B Nie, D Tang, R Li, X Liu, J Song, W Wang, Z Liu
The frequency of the Robertonian (ROB) translocation in newborn babies is approximately one in 1000. Robertsonian translocation is an unusual type of chromosome rearrangement caused by two particular chromosomes joining together. The aim of the study was to analyze the segregation of the ROB translocations in 13 male carriers, and to verify a possible inter-chromosomal effect (ICE) of the ROB translocation on chromosomes 18, X, and Y. Thirteen male patients were included in the study. Multicolor fluorescent in situ hybridization (FISH) was used to analyze chromosomes 13, 14, 15, 21, 22, 18, X and Y in sperm...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28883797/genetic-bases-of-bicuspid-aortic-valve-the-contribution-of-traditional-and-high-throughput-sequencing-approaches-on-research-and-diagnosis
#16
REVIEW
Betti Giusti, Elena Sticchi, Rosina De Cario, Alberto Magi, Stefano Nistri, Guglielmina Pepe
Bicuspid aortic valve (BAV) is a common (0.5-2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or associated with syndromic conditions [e.g., Marfan Marfan syndrome or Loeys-Dietz syndrome (MFS, LDS)]. Identification of a syndromic condition in a BAV patient is clinically relevant to personalize aortic surgery indication...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28716969/genetic-determinants-of-susceptibility-to-silver-nanoparticle-induced-acute-lung-inflammation-in-mice
#17
David K Scoville, Dianne Botta, Karen Galdanes, Stefanie C Schmuck, Collin C White, Patricia L Stapleton, Theo K Bammler, James W MacDonald, William A Altemeier, Michelle Hernandez, Steven R Kleeberger, Lung-Chi Chen, Terry Gordon, Terrance J Kavanagh
Silver nanoparticles (AgNPs) are employed in a variety of consumer products; however, in vivo rodent studies indicate that AgNPs can cause lung inflammation and toxicity in a strain- and particle type-dependent manner, but mechanisms of susceptibility remain unclear. The aim of this study was to assess the variation in AgNP-induced lung inflammation and toxicity across multiple inbred mouse strains and to use genome-wide association (GWA) mapping to identify potential candidate susceptibility genes. Mice received doses of 0...
October 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28710561/genetic-architecture-of-wild-soybean-glycine-soja-response-to-soybean-cyst-nematode-heterodera-glycines
#18
Hengyou Zhang, Qijian Song, Joshua D Griffin, Bao-Hua Song
The soybean cyst nematode (SCN) is one of the most destructive pathogens of soybean plants worldwide. Host-plant resistance is an environmentally friendly method to mitigate SCN damage. To date, the resistant soybean cultivars harbor limited genetic variation, and some are losing resistance. Thus, a better understanding of the genetic mechanisms of the SCN resistance, as well as developing diverse resistant soybean cultivars, is urgently needed. In this study, a genome-wide association study (GWAS) was conducted using 1032 wild soybean (Glycine soja) accessions with over 42,000 single-nucleotide polymorphisms (SNPs) to understand the genetic architecture of G...
December 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28704793/genome-and-transcriptome-wide-analyses-of-cellulose-synthase-gene-superfamily-in-soybean
#19
Muhammad Amjad Nawaz, Hafiz Mamoon Rehman, Faheem Shehzad Baloch, Babar Ijaz, Muhammad Amjad Ali, Iqrar Ahmad Khan, Jeong Dong Lee, Gyuhwa Chung, Seung Hwan Yang
The plant cellulose synthase gene superfamily belongs to the category of type-2 glycosyltransferases, and is involved in cellulose and hemicellulose biosynthesis. These enzymes are vital for maintaining cell-wall structural integrity throughout plant life. Here, we identified 78 putative cellulose synthases (CS) in the soybean genome. Phylogenetic analysis against 40 reference Arabidopsis CS genes clustered soybean CSs into seven major groups (CESA, CSL A, B, C, D, E and G), located on 19 chromosomes (except chromosome 18)...
August 2017: Journal of Plant Physiology
https://www.readbyqxmd.com/read/28656917/to-compare-aneuploidy-rates-between-icsi-and-ivf-cases
#20
L Sahin, M Bozkurt, H Şahin, A Gürel, E Calıskan
INTRODUCTION: Intracytoplasmic sperm injection (ICSI) currently helps many couples with male infertility. However, ICSI procedure may cause asynchronous sperm decondensation. This could introduce a risk for aneuploidy. The ICSI technique also could cause damage to the second meiotic spindle during injection and cause significantly abnormal pairing of chromosomes when compared with In vitro fertilization (IVF). In this study, we have examined whether ICSI has a higher incidence of aneuploidy when compared with IVF...
June 2017: Nigerian Journal of Clinical Practice
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