Methylation Status of Imprinted Genes and Repetitive Elements in Sperm DNA from Infertile Males

Stochastic, environmentally and/or genetically induced disturbances in the genome-wide epigenetic reprogramming processes during male germ-cell development may contribute to male infertility. To test this hypothesis, we have studied the methylation levels of 2 paternally (H19 and GTL2) and 5 maternally methylated (LIT1, MEST, NESPAS, PEG3, and SNRPN) imprinted genes, as well as of ALU and LINE1 repetitive elements in 141 sperm samples, which were used for assisted reproductive technologies (ART), including 106 couples with strictly male-factor or combined male and female infertility and 28 couples with strictly female-factor infertility. Aberrant methylation imprints showed a significant association with abnormal semen parameters, but did not seem to influence ART outcome. Repeat methylation also differed significantly between sperm samples from infertile and presumably fertile males. However, in contrast to imprinted genes, ALU methylation had a significant impact on pregnancy and live-birth rate in couples with male-factor or combined infertility. ALU methylation was significantly high-er in sperm samples leading to pregnancy and live-birth than in those that did not. Sperm samples leading to abortions showed significantly lower ALU methylation levels than those leading to the birth of a baby. Copyright (C) 2011 S. Karger AG, Base

The Ursinus Weekly, November 2, 1953

Quartets to hold program Friday, Nov. 6 • Wagner to speak on Founders Day • Juniors to sponsor dance, Penthouse serenade, Nov. 7 • Model S.C. held at Penn State • Fraternities continue rushing week activity • Group production will be given Tuesday night • Thirty-eight accept bids from sororities, Saturday • Dramatic play to be enacted by thespians • Bloodmobile will be at Ursinus, Nov. 3 • Big-little sister party to be held in rec center • SWC visits Salvation Army; Many attend vespers, Sunday • Executive committee elected by frosh to plan for class • Editorials: Rushing can be improved • Needed: Cash! • Letters to the editor • New preceptresses at South, Fircroft, Clamer • Dr. Phillips reads story by O. Wilde • Cornstalk capers is theme of dance presented by sophs • Junior preceptress tells woes and worries of job • Campus landmark views all Ursinus • Fraternities at Ursinus have interesting history • Eleanor Marcon is golf champion • Spirit, skill aid soccer; Team holds .750 record • JVs win 1-0 on Lewis goal • Stadler, Dawkins score as Belles top Swarthmore 4-1 • Merrifield, Price make first All-College • Bears in fourth victory topple strong Wagner, 14-6 • U.C. leads in tourney games • Temple cops four first team slots • Belles win three; Beat Beaver, 4-0 • Bakermen lose to Swarthmore, 6-1https://digitalcommons.ursinus.edu/weekly/1481/thumbnail.jp

The Ursinus Weekly, November 9, 1953

Palmer to speak on U.S. and India Wednesday night • Campus Chest opens contest • MSGA hears cheating case; WSGA meeting held Monday • A tradition dies, buried in snow • Newbury discusses Argentina in Ursinus class Wednesday • Barbershop quartet program postponed until November 13 • Group play deemed success by reviewer • Alumnus talks on anesthesia to pre-med society • Shades of indigo to be prom theme • Head of E. and R. Church is Founders Day speaker • IRC to hear guest speaker • Pledgees sign fraternity bids • Helena\u27s husband is group II presentation • 1955 Ruby editors are Dedekind, Belz • Chem society hears talk on Laminar chart • Pre-legal society to sponsor debate on red China in UN • 100 contribute to fill Ursinus bloodmobile quota • Editorials: Open letter to the Weekly staff • This week: Friday the 13th • Letters to the editor • Unexpected snow causes unusual weekend antics • I-F Council adopts new rule on rushing • Soccer team loses to Haverford, 3-2https://digitalcommons.ursinus.edu/weekly/1482/thumbnail.jp

The Ursinus Weekly, May 3, 1954

Jack Westerhoff elected assistant head waiter • Y officers begin duties at retreat • Honor system advances • Meistersingers present last scheduled concert • Tilton Barron to transfer to Clark Univ. • Pi Gamma Mu honors 11 with membership • The real Man who came • May Day festivities will be held this Saturday • Eugene P. Bertin spoke to F.T.A. • Dr. Rice presents model O train display in Library • Band will present twilight concert at Ursinus May Day • Rosicrucians elect officers for 1954-55 • Your obligation • Letter to the editor • Pre-med story • Average student • Professor says • Collegeville-Trappe story: Today • Batsmen still roll on glory road; Track injuries plague Eshbach, Ruth • Bryn Mawr defeats tennisettes by 3-2 • UC Varsity Club to fete outstanding senior athlete • Ehlers edges powerful Delaware, 2-1: Art wins 4th on 7 hitter; Slotter hurls 3rd shutout • Brodbeck I, Curtis II softballers lead interdorm diamond pack • Racketgals cop 5-0 court win in straight sets • Albright falls tennis victim to Ursinus, 6-3 • Lehigh takes 12 firsts; Crush tracksters 92-33https://digitalcommons.ursinus.edu/weekly/1496/thumbnail.jp

The Ursinus Weekly, October 26, 1953

British foreign policy is subject of Forum speaker • China collection now on display in Library • Trinity Church holds special student class • Sororities schedule rush week parties • PAC to sponsor bus trip to United Nations, Nov. 14 • Baby sitters made available to faculty for school events • Retreat yields extensive plans for Y activity • Junior class to hold dance November 7 • 1953 alumni news • Freshmen elect officers; Hummel named president • All my sons to be directed by Abramson • Cub and Key plans reunion • Alumnus receives appointment at Washington University • Tonsorial quartets to present program • Editorials: Do we want culture? • From scenery to sex • Engagements • Campus sororities open week of rushing activity • Quartet performs with spirit and versatility • Meistersingers schedule includes concerts, tour • Third team wins, tops Bryn Mawr, 4-0 • Belles tie E. Stroudsburg, Merrifield, Heller counter • Ursinus defeats Swarthmore, 38-21 • Bakermen win 3rd game; Lose fourth to Rutgers • JVs triumph, 6-1, defeating Albright • All-college hockey starts Saturdayhttps://digitalcommons.ursinus.edu/weekly/1480/thumbnail.jp

The Ursinus Weekly, October 12, 1953

Women\u27s AA plan reception for freshmen • Student teachers discuss problems at doggie roast • Leaders elected by women of Day Study • Academic freedom topic of chats • Deedes to open Forum season with British foreign policy talk • Draft exams scheduled for Nov. 19, Apr. 22 • Pre-med group hears Dr. Benjamin Souders • Student council activity reviewed by reporters: MSGA announces report concerning Student Union; WSGA holds first meeting, social calendar arranged • String quartet to play this Sunday • Tryouts are held for All my sons • IRC will discuss aims of U.S. and Great Britain, Oct. 19 • Fraternities plan receptions as Old Timers\u27 Day highlight • Editorials: Perseverance brings progress; Your ideas in the Weekly ; Observations unlimited • When Ursinus played Penn • Spirit Committee sparks U campus; Outstanding year of \u2753-\u2754 predicted • Ursinus coed receives reply to letter mailed in ocean • Spencer Hand added to staff of Library • About the Belles: Marge Merrifield captains promising hockey team; Numerous veterans, one freshman named to line-up • Danny back at Ursinus • Varsity hockey opens Friday • Bears win opener, 32-14; Lose to Drexel • Soccer team ties Drexel • Gurzynski sees excellent year • Touch football season openshttps://digitalcommons.ursinus.edu/weekly/1478/thumbnail.jp

The Ursinus Weekly, December 7, 1953

Prom to feature Johnny Austin, Sr. lord and lady • Wanamaker to give $1,000 scholarship • Sella resigns as senior prexy; Popowich unanimously chosen • Sixteenth Messiah performance to be held in Bomberger, Thursday • IRC to hear Chester Bowles at Bryn Mawr tonight • William S. Pettit named Dean of Ursinus College • MSGA hears student ideas at meeting • Raises revised by Stars and Players • Marge Merrifield wins hockey honor • Y plans party • Editorials: Honor at Ursinus; Maintenance mixup? • Cutting • Greek columns • Thespians present All my sons ; Reviewer notes fine performances • Pledge reveals fun and difficulties of informal Ursinus sorority initiation • Dorms eagerly anticipate vendors\u27 nightly visit • Hockey team ends season • JV Belles down Penn, W. Chester, Bryn Mawr • Soccermen lose to F&M; Season ends with party • Third team undefeated • Basketball season opens; Bears win, 84-66; 78-56 • Walker, Cox head 1954 football, soccer elevens • Dickinson downs Ursinus in football finale, 19-13 • Hockey-soccer game ends in 2-2 tie • Christmas vespers service to be held December 13 • Chemical society members visit chemical exposition • Truex speaks to pre-medders on opportunities in medicine • French Club holds program of vocal, piano music • Christmas dance plannedhttps://digitalcommons.ursinus.edu/weekly/1484/thumbnail.jp

The Ursinus Weekly, October 19, 1953

Report to MSGA shows new delay of Student Union • Deedes opens Forum season • Y invites students to attend Fall retreat • Academic freedom is topic debated at fireside chats • Jones presents readings about academic life • Freshmen class leads enrollment with 201 members • Music Club plans extensive activities • Friedlin is chosen queen; Glenwood wins trophy • Foster, Ogren join faculty • WSGA discusses rules, activities • Greenberg, Test, Brown, Bergman win leads in All my sons • Editorials: For professors only • Save every drop • Engagements • Library exhibit • Pre-meders to visit Penn medical school • Chi Alpha plans program for year • YM-YWCA members visit Plymouth Friends\u27 Meeting • Campus poll • Letters to the editor • Alumni news • Reid is speaker at first Beardwood society meeting • Steward praised for great cooperation • Selective service notice • Freshman coed evaluates customs, finds friendly spirit on U.C. campus • Male frosh finds hazing gave unity to class of \u2757 • JVs lose opener, third team wins • Soccer team wins opener • Tennis champion enrolls at Ursinus • Ursinus wins homecoming thriller, 13-7 • Beaver tops U.C. in hockey opener • Children top Old men in merry alumni soccer game • WAA votes on constitution, Tuesday • Attention called to revised absence rules • Lantern noticehttps://digitalcommons.ursinus.edu/weekly/1479/thumbnail.jp

Large-scale machine learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.

Genome-wide association studies (GWASs) require accurate cohort phenotyping, but expert labeling can be costly, time intensive, and variable. Here, we develop a machine learning (ML) model to predict glaucomatous optic nerve head features from color fundus photographs. We used the model to predict vertical cup-to-disc ratio (VCDR), a diagnostic parameter and cardinal endophenotype for glaucoma, in 65,680 Europeans in the UK Biobank (UKB). A GWAS of ML-based VCDR identified 299 independent genome-wide significant (GWS; p ≤ 5 × 10-8) hits in 156 loci. The ML-based GWAS replicated 62 of 65 GWS loci from a recent VCDR GWAS in the UKB for which two ophthalmologists manually labeled images for 67,040 Europeans. The ML-based GWAS also identified 93 novel loci, significantly expanding our understanding of the genetic etiologies of glaucoma and VCDR. Pathway analyses support the biological significance of the novel hits to VCDR: select loci near genes involved in neuronal and synaptic biology or harboring variants are known to cause severe Mendelian ophthalmic disease. Finally, the ML-based GWAS results significantly improve polygenic prediction of VCDR and primary open-angle glaucoma in the independent EPIC-Norfolk cohort

Sensitivity analysis and reduction of a dynamic model of a bioproduction of fructo-oligosaccharides

Starting from a relatively detailed model of a bioprocess producing fructo-oligosaccharides, a set of experimental data collected in batch and fed-batch experiments is exploited to estimate the unknown model parameters. The original model includes the growth of the fungus Aureobasidium pullulans which produces the enzymes responsible for the hydrolysis and transfructosylation reactions, and as such contains 25 kinetic parameters and 16 pseudo-stoichiometric coefficients, which are not uniquely identifiable with the data at hand. The aim of this study is, therefore, to show how sensitivity analysis and quantitative indicators based on the Fisher information matrix can be used to reduce the detailed model to a practically identifiable model. Parametric sensitivity analysis can indeed be used to progressively simplify the model to a representation involving 15 kinetic parameters and 8 pseudo-stoichiometric coefficients. The reduced model provides satisfactory prediction and can be convincingly cross validated.The authors thank the financial support from the F.R.S.-FNRS, the Belgium National Fund for the Scientific Research (Research Project 24643.08). C. Nobre thanks the Fundação para a Ciência e Tecnologia for the strategic funding of UID/BIO/04469 /2013 unit.info:eu-repo/semantics/publishedVersio