A Review of Recessive Genetic Diseases in Cattle

A Review of Recessive Genetic Diseases in Cattle Huan Yu Introduction Cattle are susceptible to a wide range of genetic diseases. The majority of inherited genetic diseases recognized in cattle are autosomal recessive, mainly due to the practice of â€Å"line-breeding†. The defective calf receives error gene inherited from both its sire and dam. However, if the inherited mutant gene comes from only one parent, such individual usually turns out to be a carrier of the disease without any symptoms (Patel, 2010). Genetic abnormalities contribute to poor performance and structural unsoundness to semi-lethal and lethal diseases. Since most genetic diseases are breed-specific, artificial insemination a widely used technique for cattle breeding may lead to high levels of inbreeding and an inevitable increase in the prevalence of recessive defects. Hence, it is imperative to increase the awareness of genetic diseases in cattle among animal breeders and farmers. This will stimulate strategies to reduce the economic loss due to such genetic diseases in cattle. More so, genetic tests for DNA markers such as Citrullinemia and BLAD may be utilised to identify animals with inherited defects at a very young age based on PCR-RFLP marker (Gholap, Kale and Sirothia, 2014). Also, there is need for cooperation among government agencies, veterinarians, animal scientists and farmers in the control of genetic defects among commercial cattle populations, by formulating and adopting good monitoring and control measures. This paper reviews some recessive genetic diseases in cattle with particular reference to its definition, genetic cause (DNA mutation) and the clinical symptoms. Furthermore, it also discuss some best practice to control the genetic disease in breeding population of dairy and beef cattle breeds. Recessive Genetic Diseases 1. Double Muscling or Muscular Hypertrophy Animals are described a â€Å"double-muscled† (see Fig. 1) when they have a myostatin mutation. Double muscle gene is caused by the mutation of the muscle growth inhibition gene located on the second chromosomes. It is a negative regulatory factor of the skeletal muscle growth, a member of the TGF-ÃŽ ² supergene family (Fiems, 2012). McPherron et al., (1997) noticed that these diseases are mainly found in Belgian Blue and Piedmontese cattle, which usually have an incredibly muscular look even if they do not exercise. Although, DM animals are touted to be beneficial to farmers, meat industry and consumers due to their valuable carcasses, however, they are more susceptible to respiratory disease, stress and dystocia, resulting in a lower robustness. Fig. 1. A fullblood Belgian Blue bull showing the double muscling phenotype. Adapted from McPherron et al., 1997. 2. Bovine Progressive Degenerative Myeloencephalopathy (Weaver Calf) Bovine Progressive Degenerative Myeloencephalopathy (see Fig. 2) is a recessive neurological disease most commonly reported in Brown Swiss pure and crossbred cattle since the 1970’s in Northern America and Europe. It is usually caused by mutations in the EZH2 gene and some rare reported cases have implicated mutations in the NSD1 gene (Gholap, Kale and Sirothia, 2014). Clinical signs of the disease includes hind limb weakness, ataxia, and dysmetria appear in homozygous individuals around 6 months of age with a progressive weakness extending over 2-3 years. The occurrence of this disease can be determined by mapping Bos Taurus autosome (BTA) 4:46-56 Mb and a commercially available diagnostic test marker for 6 microsatellite (MS) (McClure et al., 2013). Fig. 2. Eighteen-month-old Brown heifer affected by â€Å"Weaver syndrome† Adapted from Gentile and Testoni, 2006. 3. Arachomelia Arachnomelia is a monogenic recessive disease in cattle characterized by skeletal abnormalities and usually found in Brown, German Fleckvieh-Simmental cattle (Drà ¶gemà ¼ller et al., 2010). The causative mutation is due to SUOX gene (BTA5) encoding molybdohemoprotein sulphite oxidase and deleting c.1224-1225delC (Gholap, Kale and Sirothia, 2014). The affected cattle presents with fragile, thinner and longer legs in combination with stiffened joints. The fetlock joints are deformed and the skull malformations are characterized by shortened lower jaw, pointer head (see Fig. 3). Fig. 3. Phenotype of bovine arachnomelia in Brown Swiss cattle Adapted from Drà ¶gemà ¼ller et al., 2010. 4. Neuropathic Hydroceohalus (Water Head) Hydrocephaly is an abnormal increase in the amount of cerebrospinal fluid within the cranial cavity. It is accompanied by expansion of the cerebral ventricles, enlargement of the skull and especially the forehead, and atrophy of the brain which may result in stillborn or dummy calves (Arsdall, 2011). One mutation causing NH in the descendents of GAR Precision 1680, and a popular AI sire in high marbling Angus bloodlines. This disease most commonly found in Angus and Angus infused beef cattle. Affected calves are born dead with an extremely large cranium with little or no brain material or spinal cord (see Fig. 4). It is probable that a large percentage of mortalities relating to NH occur through embryonic or fetal loss during gestation, which causes the defect to go misdiagnosed or unnoticed. Fig. 4. Deformity in a stillborn calf due to neuropathic hydrocephalus Adapted from Vetbook.org, 2013. 5. Chondrodysplasia (Dwarfism) Bovine chondrodysplastic dwarfism (BCD) is an autosomal recessive disorder with the phenotype of short limbs, joint abnormality, and ateliosis (see Fig. 5). This disorder mainly results from the mutation of a single nucleotide substitution leading to an activation of a cryptic splicing donor site and a one-base deletion resulting in a frameshift mutation (Takeda et al., 2002). Clinical signs of the disease may present with wide variation, but the main feature is reduced length of bones with an endochondral growth pattern. The Dexter cattle that inherit two copies of the ACAN mutation will abort during the third trimester, while the heterozygous individuals will show the desired miniature cattle phenotype (Arsdall, 2011). Fig. 5. An example of the degree of dwarfism expressed in carriers Adapted from Davidson, 2008. Strategies for Controlling Genetic Defects Most genetic diseases are breed-specific that can cause the huge economic losses due to poor animal performance; structural unsoundness reduces the production and reproductive potential of the animal. Consequently, it is necessary to determine the cause of inherited defects. Moreover, controlling genetic diseases, ethical and legal considerations are also important methods to minimise the genetic diseases in breeding population of dairy and beef cattle breeds. Firstly, farmers should have good breeding records for each animal which include their sire and dam, date of breeding, the date of breeding, abnormality descriptions and photos or videos and causes of death, if the farmers cannot find the reason of death, they should ask help from veterinarians or state diagnostic laboratory (Jane and Trent, 2010). Some of the recessive genetic diseases are somewhat difficult to recognise because mutant gene inherited from only one parent is usually without symptoms. Therefore, good records by breeders will help to know the causes of death in controlling diseases and good diagnosis for the congenital defects. Secondly, animals that carry a defective gene should be prevented from passing it on to their offsprings by culling. DNA testing is currently available for the genetic diseases. The calf should be made to undergo blood typing within one-month of age to allow early diagnosis of underlying disease. Importantly, Bulls or semen should be purchased from reputable breeders, produced by parents who are not known to carry undesirable genes (Schalles, Leipold and McCraw, 1914). Although, the DNA testing is a huge financial burden as well as time consuming, however, a good diagnosis from one dead calf can save many others. In the last decade, the development of DNA tests for detecting BLAND and Citrullinemia has been effective in breeding population (Gholap, Kale and Sirothia, 2014). Furthermore, seed stock producers have an obligation to be honest with the customers and to ensure that their customers understand the consequences of using offspring from know carriers. Otherwise, the breeder’s reputations will be at stake, as well as reflect negatively on the entire breed. Conclusion Genetic diseases in dairy and beef cattle affect the economics of animal breeders and farmers, and it is a long way to developing DNA tests for the diagnosis of most diseases to check the spread of undesirable genes effectively. Farmers should cooperate with the breed association, extension and university personnel and veterinarians to eliminate and avoid these problems. The government also need to raise public awareness of genetic diseases in breeding population of dairy and beef cattle breeds via social media, advertisements and journals. References Arsdall, D. V. (2011). Neuropathic Hydrocephalus (NH) Water Head [online] Available from: http://calfology.com/library/wiki/neuropathic-hydrocephalus-nh-quotwater-headquot [Accessed 12 May 2015] Arsdall, D. V. (2011). Dwarfism (Condrodysplasia) [online] Available from: http://calfology.com/library/wiki/dwarfism-condrodysplasia [Accessed 12 May 2015] Carol Davidson (2008). American Dexter Cattle Association [online] Available from: http://www.dextercattle.org/adca/adca_article_chondrodysplasia.html [Accessed 13 May 2015] Drà ¶gemà ¼ller, C., Tetens, J., Sigurdsson, S., Gentile, A., Testoni, S., Lindblad-Toh, K. and Leeb, T. (2010). ‘Identification of the Bovine Arachnomelia Mutation by Massively Parallel Sequencing Implicates Sulfite Oxidase (SUOX) in Bone Development’, PLoS Genetics, vol.6, no.8, pp.e1001079 Fiems, L. (2012). ‘Double Muscling in Cattle: Genes, Husbandry, Carcasses and Meat’, Animals, vol.2, no.4, pp.472-506 Gholap, P. N., Kale. D. S. and Sirothia. A. R. (2014). ‘Genetic Diseases in Cattle: a Review’, Research Journal of Animal, Veterinary and Fishery Sciences, vol. 2, no. 2, pp.24-33 Gentile, A., Testoni, S. (2006). ‘Inherited disorders of cattle: a selected review’, Slov vet Res, vol.43, no.1, pp.17-29 Jane A. Parish and Trent Smith (2010) Managing Genetic Defects in Beef Cattle Herds [online] Available from: http://msucares.com/pubs/publications/p2622.pdf [Accessed 13 May 2015] McClure, M., Kim, E., Bickhart, D., Null, D., Cooper, T., Cole, J., Wiggans, G., Ajmone-Marsan, P., Colli, L., Santus, E., Liu, G., Schroeder, S., Matukumalli, L., Van Tassell, C. and Sonstegard, T. (2013) ‘Fine Mapping for Weaver Syndrome in Brown Swiss Cattle and the Identification of 41 Concordant Mutations across NRCAM, PNPLA8 and CTTNBP2’, PLoS ONE, vol.8, no.3, pp.e59251 Patel, R. K. (2010). ‘Autosomal Recessive Genetic Disorders of Cattle Breeds Worldwide-A Review’, Journal of Livestock Biodiversity, vol.2, no.1, pp.35-41 Schalles, R. R., Leipold, H. W., McCraw, R. L. (1914). Congenital Defects in cattle [online] Available from: http://www.iowabeefcenter.org/Beef%20Cattle%20Handbook/Congenital_Defects_Cattle.pdf [Accessed 13 May 2015] Vetbook.org (2013) Neuropathic hydrocephalus – Cow [online] Available from: http://vetbook.org/wiki/cow/index.php/Neuropathic_hydrocephalus [Accessed 13 May 2015]

Childhood and Memories poetry Essay

Carol Ann Duffy was born in 1955 and has four brothers; she grew up in Staffordshire with a strong religious upbringing. At fourteen she decided to become a poet and has written ever since. A lot of her works look at growing up and past experiences especially from childhood. Most of these poems are published in her 1993 book of poetry, â€Å"Mean Time†. I am going to concentrate on five of her poems; â€Å"The Captain of the 1964 Top of the Form Team†, â€Å"Litany†, â€Å"Stafford Afternoons†, â€Å"Brothers† and â€Å"Prayer†. One of the most obvious points that stand out in all of Duffy’s poems is religion and it isn’t surprising having gone to catholic schools since the age of seven! The poem â€Å"Litany† has a clear religious meaning with the title having Christian references; a litany in the church is a list of people who the congregation pray for in a time of need. By Litany, I believe that Carol Ann Duffy is actually trying to portray the things that really stood out in her childhood, a good example of this could be the first litany in the poem, â€Å"candlewick bedspread three piece suite display cabinet†. Perhaps Duffy was often old of for damaging her mother’s sofa or can remember her mother tidying up the house and the bedspread for visitors. Another poem with religious iconography is â€Å"Brothers†, in which Carol Ann Duffy describes her four siblings, on of which is illustrated as â€Å"an alter boy† I believe she is trying to tell the reader that they lived solitary lives and didn’t have a very active social live inside or outside the family. This is because of the portrayal of her other brothers, â€Å"a boy practising scales†, â€Å"a boy playing tennis with a wall† and â€Å"a baby crying†. If you look at these collectively you can see that these are quite lonesome activities and events, none of them involve other people. My final example of religious connotations is in â€Å"Prayer†, most of the poem is in iambic pentameter and I believe that this is trying to show that religion can bring order in to a hectic lifestyle. The poem is about loosing faith but still having hope and a type of sub-conscious faith in your mind. The rhythmic structure along with the religious connotations throughout the poem give hope to reader by allowing us to believe that the poet has suffered the same as you and has got through their experiences and are here to remember them. Carol Ann Duffy also uses the effect of the senses on the reader, my first example of this is in â€Å"Litany†; the poet uses taste to relieve the memory of being disciplined. â€Å"The taste of soap† is quite a strong image that, unfortunately, most people can remember from being in the shower or having a wash! The use of senses gives the reader the chance to really imagine themselves in the poet’s shoes and gives the poem a more realistic picture. In â€Å"Brothers†, Carol Ann Duffy uses another sense; hearing to emphasis her mothers repetitive comments about children and her wishes to be a grandmother but then finding out that Duffy was a lesbian. I believe that the phase â€Å"I hear her life in the words† obviously this is a turning point in Duffy’s life; telling your mother your gay isn’t the easiest thing in the world! And the use of senses here shows how much this experience really did stand out. These two examples are quite obvious but the final one is a little more subtle. It is again in Litany and is synaesthesia, it mixes more than one sense, Duffy explains how a butterfly moves into her hands, â€Å"a butterfly stammered into my curious hands† here the two senses being used are touch, the butterfly crawling onto her hands and voice in the word stammering it is a piece of onomatopoeia. Synaesthesing allows the audience to imagine one thing, in this case someone stammering and put it into another situation, a butterfly crawling and flapping its wings. This gives the all important realistic picture.

Pastor as Person †A Review Essay

As the title itself suggests, the whole thrust is on the personhood of the pastor. At the start (Chapter Two), stress is given to highlight the need for new approach in ministry. Although it was not directly stated, the idea was pointed out when Tom, a pastor, received a letter from his alma mater concerning the seminary’s plan to include into its curriculum a subject called The Person in Ministry. As the conversation of the characters progressed, and at the same time their personalities somewhat introduced briefly in chapter one, the theme of the entire book becomes more in focus. Indeed, as Gary L. Harbaugh was trying to highlight from the very outset, even the person behind the pulpit Sunday after Sunday is a real person with the characteristics of a normal human being with almost the same things to cope in life, if not exactly identical. The way the five pastors were presented – Tom Daniels, Joan Russel, Paul Denning, Chris Campbell, and John Jeffrich – in the first chapter seems to stress the fact of the human side of ministers in general. Although the tone of the author, all along, was to paint an honest appraisal of the pastor, and at the same time with the intention of helping his readers realize the impossibility for those among the ordained clergy to perform their lifetime duties effectively without comprehending their frame as human beings, more often than not, the overall expectation from the ministers is very unrealistic. And so, Harbaugh, in this book, incorporated all necessary studies/sciences which for him might yield a more comprehensive and more accurate portrayal of the minister as human specie. Through the lenses of philosophy, theology, psychology, and anthropology, the pastor was presented – not as someone who is above the rest, but someone who is very much like those considered rank and file (Harbaugh, 1985). At the last paragraph of the book, Dr. Harbaugh expressed his hope that upon reading, the reader (presumably, a minister) is â€Å"affirmed† and now having gained valuable insights into his/her personhood, with fresh outlook, the remaining years of ministry will not be anymore burdensome but promising instead. In Chapter Two, Harbaugh highlights the reality that the pastor is not only a spiritual person but physical as well. He experiences stress and at times may be subjected to bouts of â€Å"burnout. † King Hezekiah of the Old Testament was mentioned as an object lesson of a person dealing with stress. The author pointed out that there are correct responses to stressors and pressures, although unfortunately, pastors usually opted for what Dr. Harbaugh called as the pastor’s â€Å"common reactions† to stress. To really experience growth in life and in faith, one has to face his/her responsibilities and do everything within his/her ability to do, and at the same time, one has to accept his limitations that he/she cannot possibly do everything even while doing and employing the best possible means within his/her ability. As Dr. Harbaugh said, using the well familiar hymn, â€Å"Christ is the solid rock on which† ultimately, our â€Å"holistic response to stress can stand. † Moreover, the pastor also is an intellectual being. He thinks. This is the emphasis of the third chapter. While it is true that there are similarities, or things common among those in the clergy, Harbaugh maintains the individuality of the pastor (Harbaugh, 1985). This means that each pastor is different and hence must be dealt with individually. A right balance must be maintained between the pastor’s vocation and his personal/family life. Dr. Harbaugh, in Chapter Four, introduced Ptr. John Jeffrich. Through Jeffrich’s personality, Harbaugh presented a pastor just like anybody else reacting and full of emotions. Indeed, one cannot empathize with others without having gone through the same griefs which other people have gone through. â€Å"Weakness is strength† (Harbaugh, 1985). The remaining chapters – 5 and 6 – are expansions, further explorations of previous chapters. How the pastor should deal with different issues as he/she relates to other people. In summary, the pastor should learn to accept everything that he/she is – with strengths and weaknesses. As a pastor, he/she is chosen by God for the people of God.

Parsing Text Files With Perl

Parsing text files is one of the reasons Perl makes a great data mining and scripting tool. As youll see below, Perl can be used to basically reformat a group of text. If you look down at the first chunk of text and then the last part at the bottom of the page, you can see that the code in the middle is what transforms the first set into the second. How to Parse Text Files As an example, lets build a little program that opens up a tab separated data file, and parses the columns into something we can use. Say, as an example, that your boss hands you a file with a list of names, emails, and phone numbers, and wants you to read the file and do something with the information, like put it into a database or just print it out in a nicely formatted report. The files columns are separated with the TAB character and would look something like this: Larry larryexample.com 111-1111 Curly curlyexample.com 222-2222 Moe moeexample.com 333-3333 Heres the full listing well be working with: #!/usr/bin/perl open (FILE, data.txt); while (FILE) { chomp; ($name, $email, $phone) split(\t); print Name: $name\n; print Email: $email\n; print Phone: $phone\n; print ---------\n; } close (FILE); exit; Note:Â  This pulls some code from the tutorial on how to read and write files in Perl. What it does first is open a file called data.txt (that should reside in the same directory as the Perl script). Then, it reads the file into the catchall variable $_ line by line. In this case, the $_ is implied and not actually used in the code. After reading in a line, any whitespace is chomped off the end of it. Then, the split function is used to break the line on the tab character. In this case, the tab is represented by the code \t. To the left of the splits sign, youll see that Im assigning a group of three different variables. These represent one for each column of the line. Finally, each variable that has been split from the files line is printed separately so that you can see how to access each columns data individually. The output of the script should look something like this: Name: Larry Email: larryexample.com Phone: 111-1111 --------- Name: Curly Email: curlyexample.com Phone: 222-2222 --------- Name: Moe Email: moeexample.com Phone: 333-3333 --------- Although in this example were just printing out the data, it would be trivially easy to store that same information parsed from a TSV or CSV file, in a full-fledged database.