Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation

Four related cows showed hairless streaks on various parts of the body with no correlation to the pigmentation pattern. The stripes occurred in a consistent pattern resembling the lines of Blaschko. The non-syndromic hairlessness phenotype observed occurred across three generations of a single family and was compatible with an X-linked mode of inheritance. Linkage analysis and subsequent whole genome sequencing of one affected female identified two perfectly associated non-synonymous sequence variants in the critical interval on bovine chromosome X. Both variants occurred in complete linkage disequilibrium and were absent in more than 3900 controls. An ERCC6L missense mutation was predicted to cause an amino acid substitution of a non-conserved residue. Analysis in mice showed no specific Ercc6l expression pattern related to hair follicle development and therefore ERCC6L was not considered as causative gene. A point mutation at the 5'-splice junction of exon 5 of the TSR2, 20S rRNA accumulation, homolog (S. cerevisiae), gene led to the production of two mutant transcripts, both of which contain a frameshift and generate a premature stop codon predicted to truncate approximately 25% of the protein. Interestingly, in addition to the presence of both physiological TSR2 transcripts, the two mutant transcripts were predominantly detected in the hairless skin of the affected cows. Immunohistochemistry, using an antibody against the N-terminal part of the bovine protein demonstrated the specific expression of the TSR2 protein in the skin and the hair of the affected and the control cows as well as in bovine fetal skin and hair. The RNA hybridization in situ showed that Tsr2 was expressed in pre- and post-natal phases of hair follicle development in mice. Mammalian TSR2 proteins are highly conserved and are known to be broadly expressed, but their precise in vivo functions are poorly understood. Thus, by dissecting a naturally occurring mutation in a domestic animal species, we identified TSR2 as a regulator of hair follicle development.

Zur Kenntnis von Aphelenchus ormerodis Ritzema Bos.

Von Dr. Kati Marcinowski

Zur Biologie und Morphologie von Cephalobus elongatus de Man und Rhadbitis brevispina Claus, nebst Bemerkungen über einige andere Nematodenarten

Von Kati Marcinowski

Combatiendo el estigma

Presentación en la 3ra Conferencia Subregional Andina. Lima, Perú, 5 de Noviembre de 2015

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

Mouse Tabby (Ta) and X chromosome-linked human EDA share the features of hypoplastic hair, teeth, and eccrine sweat glands. We have cloned the Ta gene and find it to be homologous to the EDA gene. The gene is altered in two Ta alleles with a point mutation or a deletion. The gene is expressed in developing teeth and epidermis; no expression is seen in corresponding tissues from Ta mice. Ta and EDA genes both encode alternatively spliced forms; novel exons now extend the 3′ end of the EDA gene. All transcripts recovered have the same 5′ exon. The longest Ta cDNA encodes a 391-residue transmembrane protein, ectodysplasin-A, containing 19 Gly-Xaa-Yaa repeats. The isoforms of ectodysplasin-A may correlate with differential roles during embryonic development.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

The congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin filament. In a single large Australian family with an autosomal dominant form of nemaline myopathy, the disease is caused by a mutation in the α-tropomyosin gene TPM3. The typical form of nemaline myopathy is inherited as an autosomal recessive trait, the locus of which we previously assigned to chromosome 2q21.2-q22. We show here that mutations in the nebulin gene located within this region are associated with the disease. The nebulin protein is a giant protein found in the thin filaments of striated muscle. A variety of nebulin isoforms are thought to contribute to the molecular diversity of Z discs. We have studied the 3′ end of the 20.8-kb cDNA encoding the Z disc part of the 800-kDa protein and describe six disease-associated mutations in patients from five families of different ethnic origins. In two families with consanguineous parents, the patients were homozygous for point mutations. In one family with nonconsanguineous parents, the affected siblings were compound heterozygotes for two different mutations, and in two further families with one detected mutation each, haplotypes are compatible with compound heterozygosity. Immunofluorescence studies with antibodies specific to the C-terminal region of nebulin indicate that the mutations may cause protein truncation possibly associated with loss of fiber-type diversity, which may be relevant to disease pathogenesis.

Cloning and characterization of a third human lysyl hydroxylase isoform

Lysyl hydroxylase (EC 1.14.11.4), a homodimer, catalyzes the formation of hydroxylysine in collagens. Recently, an isoenzyme termed lysyl hydroxylase 2 has been cloned from human sources [M. Valtavaara, H. Papponen, A.-M. Pirttilä, K. Hiltunen, H. Helander and R. Myllylä (1997) J. Biol. Chem. 272, 6831–6834]. We report here on the cloning of a third human lysyl hydroxylase isoenzyme, termed lysyl hydroxylase 3. The cDNA clones encode a 738 amino acid polypeptide, including a signal peptide of 24 residues. The overall amino acid sequence identity between the processed human lysyl hydroxylase 3 and 1 polypeptides is 59%, and that between the processed lysyl hydroxylase 3 and 2 polypeptides is 57%, whereas the identity to the processed Caenorhabditis elegans polypeptide is only 45%. All four recently identified critical residues at the catalytic site, two histidines, one aspartate, and one arginine, are conserved in all these polypeptides. The mRNA for lysyl hydroxylase 3 was found to be expressed in a variety of tissues, but distinct differences appear to exist in the expression patterns of the three isoenzyme mRNAs. Recombinant lysyl hydroxylase 3 expressed in insect cells by means of a baculovirus vector was found to be more soluble than lysyl hydroxylase 1 expressed in the same cell type. No differences in catalytic properties were found between the recombinant lysyl hydroxylase 3 and 1 isoenzymes. Deficiency in lysyl hydroxylase 1 activity is known to cause the type VI variant of the Ehlers–Danlos syndrome, and it is therefore possible that deficiency in lysyl hydroxylase 3 activity may lead to some other variant of this syndrome or to some other heritable connective tissue disorder.

Quaternary ammonium-functionalized silica sorbents for the solid-phase extraction of aromatic amines under normal phase conditions

Quaternary ammonium-functionalized silica materials were synthesized and applied for solid-phase extraction (SPE) of aromatic amines, which are classified as priority pollutants by US Environmental Protection Agency. Hexamethylenetetramine used for silica surface modification for the first time was employed as SPE sorbent under normal phase conditions. Hexaminium-functionalized silica demonstrated excellent extraction efficiencies for o-toluidine, 4-ethylaniline and quinoline (recoveries 101–107%), while for N,N-dimethylaniline and N-isopropylaniline recoveries were from low to moderate (14–46%). In addition, the suitability of 1-alkyl-3-(propyl-3-sulfonate) imidazolium-functionalized silica as SPE sorbent was tested under normal phase conditions. The recoveries achieved for the five aromatic amines ranged from 89 to 99%. The stability of the sorbent was evaluated during and after 150 extractions. Coefficients of variation between 4.5 and 10.2% proved a high stability of the synthesized sorbent. Elution was carried out using acetonitrile in the case of hexaminium-functionalized silica and water for 1-alkyl-3-(propyl-3-sulfonate) imidazolium-functionalized silica sorbent. After the extraction the analytes were separated and detected by liquid chromatography ultraviolet detection (LC-UV). The retention mechanism of the materials was primarily based on polar hydrogen bonding and π–π interactions. Comparison made with activated silica proved the quaternary ammonium-functionalized materials to offer different selectivity and better extraction efficiencies for aromatic amines. Finally, 1-alkyl-3-(propyl-3-sulfonate) imidazolium-functionalized silica sorbent was successfully tested for the extraction of wastewater and soil samples.

University of Michigan Field Hockey Team, 1997

Top Row (left to right in line): Julie Flachs, Jeanne Shin, Ashley Thomas, Ashley Reichenbach, (18) Kati Oates, Courtney Reid, Lindsay Babbitt, (24) Aimee Remigio, Erica Widder, (5) Amy Philbrook, (38) Amy Helber, (22) Sandra Cabrera, (8) Regan Wolfsberg, (69) Erika Lorensond, (12), Meredith Weinstein, (21) Shelley Johnson

Left Corner: (3) Kelli Gannon, Jocelyn LaFace, (4) Tamra Geryk

Right Corner: (13) Loveita Wilkinson, (19) Sasha Dunlop

University of Michigan Field Hockey Team, 1998

Front Row (Sitting): Amy Philbrook

Row 2: Stephanie Sackellars, Kelli Gannon, Jessie Veith, Laura Stinson

Row 3: Ali Balmer, Jeanne Shin, Erica Widder, Ashley Reichenbach, Elizabeth Martin

Row 4: Adrienne Voutta, Sasha Dunlop, Lindsay Babbitt, Tamra Geryk, Loveita Wilkinson, Ashley Thomas

Top Row: Erika Lorenson, Kati Oakes, Regan Wulfsberg, Courtney Reid, Catherine Foreman, Maureen Tasch

Languaging the worker:globalized governmentalities in/of language in peripheral spaces

In the introduction to the special issue “Languaging the worker: globalized governmentalities in/of language in peripheral spaces”, we take up the notion of governmentality as a means to interrogate the complex relationship between language, labor, power and subjectivity in peripheral multilingual spaces. Our aim here is to argue for the study of governmentality as a viable and growing approach in critical sociolinguistic research. As such, in this introduction, we first discuss key concepts germane to our interrogations, including the notions of governmentality, languaging, peripherality and language worker. We proceed to map out five ethnographically and discourse-analytically informed case studies. These examine diverse actors in different settings pertaining to the domain of work. Finally we chart how the case studies construe the issue of languaging the worker through a governmentality frame.

Evaluation of Mobile Telephone Text Message Reminders for People with Antipsychotic Medication

Nonadherence to treatment is a worldwide problem among people with severe mental disorders. Patient treatment adherence may be supported with simple reminding methods e.g. text message reminders. However, there is limited evidence of its benefits. Intervention evaluation is essential in mHealth research. Therefore, this evaluative study was conducted. This study aimed to evaluate text message reminder use in encouraging patients’treatment adherence among people with antipsychotic medication. The data were collected between September 2011 and December 2013. First, a systematic literature review revealed that text message reminders were widely used in healthcare. However, its impacts were conflicting. Second, a sub-sample (n = 562) analysis showed that patients preferred humorous text message reminders and preferred to receive them in the morning, at the beginning of the week. Age, gender and marital status seemed to have different effects on the preferred amount and timing of the selected reminders. Third, a cross-sectional survey revealed that people with antipsychotic medication (n = 408) expressed overall satisfaction towards the reminder system. Finally, the evaluative design showed that patient recruitment for a randomized controlled trial concerning people with antipsychotic medication was challenging due to low rates of eligible participants. Follow-up drop-out rates varied depending on the data collection method. Participants’ demographic characteristics were associated with the risk of dropping out from the trial. This study suggests that text messages are a potential reminder system in healthcare services among people with antipsychotic medication. More research is needed to gain a comprehensive picture of the impacts and effectiveness of text message reminders.

J. R. R. Tolkienin teoksen The Hobbit kahden eri suomennoksen erisnimien vertailu

Tämän tutkielman tutkimuskohteena ovat J. R. R. Tolkienin teoksen The Hobbit (1937) erisnimet ja niiden käännökset kahdessa eri suomennoksessa. Suomennokset ovat Risto Pitkäsen Lohikäärmevuori (1973) ja Kersti Juvan Hobitti (1985). Tutkimuksessa selvitetään, millaisia käännösstrategioita suomentajat ovat käyttäneet erisnimien kääntämiseen ja eroaako strategioiden käyttö eri erisnimiluokkien välillä. Lisäksi tutkimuksessa selvitetään, säilyvätkö erisnimien funktiot ja merkitykset käännöksissä. Tutkimus on empiirinen ja kvalitatiivinen. Analyysin apuna käytettiin vakiintunutta käännösstrategialuokittelua. Tutkimuksen tuloksista käy ilmi, että koko teosten osalta kummassakin suomennoksessa on erisnimien kääntämiseen useimmin käytetty käännöstä ja korvaamista. Suurin ero suomentajien välillä on ollut lainan ja osalainan käytössä, sillä Juva on käyttänyt näitä huomattavasti useammin kuin Pitkänen. Erisnimiluokkien välillä ei ollut kovin suuria eroja. Juva on käyttänyt lainaa useammin henkilönnimissä kuin paikannimissä, kun taas Pitkänen on suosinut korvaamista useammin henkilönnimissä kuin paikannimissä. Suomentajat ovat useimmiten säilyttäneet erisnimien alkuperäiset funktiot käännöksissään. Eniten vaihtelua oli identifioivan, deskriptiivisen ja fiktionaalistavan funktion osalta. Funktion siirtymiseen vaikutti muun muassa, oliko erisnimi yksi- vai moniosainen. Moniosaisen erisnimen funktio säilyi yleisesti ottaen useammin kuin yksiosaisen. Erisnimien merkitysten tutkiminen osoitti, että jos alkuperäisen nimen merkitys ei ollut säilynyt käännöksessä, nimi oli joko saanut uuden merkityksen, jo olemassa ollut merkitys oli muuttunut tai jokin alkuperäinen merkitys oli hävinnyt käännetystä nimestä. Pitkäsen käännöksissä oli useammin uusia merkityksiä kuin Juvalla, hävinneitä merkityksiä oli kummallakin vain muutamia ja muuttuneita merkityksiä oli kummankin käännöksissä. Erisnimien merkitykset olivat suurimmaksi osaksi kuitenkin säilyneet samoina kuin lähdeteoksessa. Käännösstrategioiden valinnalla ei ollut suoraa yhteyttä erisnimien funktioiden tai merkitysten säilymiseen poistoa ja osapoistoa lukuun ottamatta.

Generation of a business plan for a logistics service provider

The purpose of this Master’s Thesis was to study the suitability of transportation of liquid wastes to the portfolio of the case company. After the preliminary study the waste types were narrowed down to waste oil and oily waste from ports. The thesis was executed by generating a business plan. The qualitative research of this Master’s Thesis was executed as a case study by collecting information from multiple sources. The business plan was carried out by first familiarizing oneself with literature related to business planning which was then used as a base for the interview of the customer and interviews of the personnel of the case company. Additionally, internet sources and informal conversational interviews with the personnel of the case company were used and these interviews took place during the preliminary study and this thesis. The results of this thesis describe the requirements for the case company that must be met to be able to start operations. Import of waste oil fits perfectly to the portfolio of the case company and it doesn’t require any big investments. Success of the import of waste oil is affected by price of crude oil, exchange rate of ruble and legislation among others. Transportation of oily waste from ports, in turn, is not a core competence of the case company so more actions are required to start operating such as subcontracting with a waste management company.