Polydactyly is a medical term used to describe extra fingers on hands or toes at birth it’s called a congenital anomaly (Biesecker,2012). The physical extra fingers may be small and nonfunctional or can be a fully working finger, existing in different places on the hands and feet (Biesecker,2012). The organelle that causes this disease is cilia, which are slender, microscopic, hair like organelles, found in eukaryotic cells (Ciliopathy Alliance,2010). They are located all around the exterior of the cell, in the lining of the trachea, and in female human fallopian tubes (Summers,2015). Cilia propel an organism by a pull and recovery stroke method and they are used to capture food, accomplishing this by waving in a consecutive order, thus generating …show more content…
Primary cilia function as cellular antennae that receive signals from the environment and transmit them to the cell body to control many important cellular functions (Brown,2014). Hedgehog signaling (transmits info to embryonic cells required for proper development) is dependent on IFT (intraflagellar transport) in cilia required for normal skeletal patterning during development (Brown,2014). The receptor protein (GAS11) for this pathway is found in the ciliary membrane, also known as a specialized membrane, which is crucial for successful ciliary function to be carried out (Adam-Day,2015). GAS11 is a component of the dynein regulatory complex, attached to the outer doublets (Adam-Day,2015). Mutations in the outer doublets or central pair may end up leading to more severe symptoms. When GAS11 isn’t present and synthesized properly then it can lead to defective dynein arm activity. If that happens then the cilia’s function won’t be carried out, which explains why mutations in outer dynein arms are so frequently seen as the cause of Primary Ciliary Dyskinesia (PCD) in patients as well as Polydactyly. The main function of cilia is to propel an organism around, but there are several more functions that cilia do (Ciliopathy Alliance,2010). They also capture food and sweep …show more content…
TTC8 contains several tetratricopeptide repeats (TRPs) involved in protein-protein interactions (Stoetzel,2005). This coding gene is linked to Polydactyly because it is expressed in ciliated cells and it is involved in the formation of cilia (Katsanis N.,2003). Researchers sequenced the coding regions of TTC8 in 35 BBS families of different ethnical backgrounds. Genotype-phenotype correlation was explored in patients with identified mutations (Bin,2009). To date only 3 families out of a series of 128 BBS families were reported to have TTC8 mutations (Stoetzel,2005). Two of the three families have a homozygous mutation and the third family has a heterozygous mutation. Mutations in TTC8 account for only a minority of BBS families approximately around 2%. The first family was consanguineous of North African descent with 3 BBS affected sibs (blood related) as well as 3 non-affected sibs. The affected sibs contained homozygous splice-site mutation, which affects the last G on exon 4 of TTC8. Family two had an irregular case of Lebanese background. Proband born from a consanguineous marriage. The affected sibs contained homozygous splice-site mutation on exon 6 of TTC8. Polydactyly is believed to depart from classical autosomal recessive mode and might
Also evident are molluscoid pseudotumors (fleshy lesions associated with scars) frequently found over pressure points (e.g. elbows) and subcutaneous spheroids, which are commonly mobile and palpable on the forearms and shins. Complications of joint hypermobility include sprains, dislocation are common in the shoulder, patella and temporomandibular joints Muscle hypotonia and slower gross motor development also can occur It is inherited in an autosomal dominant manner (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L.). In the Hypermobile type of EDS, the joints of the body experience Hypermobility, which is the dominant clinical manifestation. General joint hypermobility affects large (elbows, knees) and small (fingers and toes) joints. Skin is hyperextensible, smooth/velvety, and bruising occurs easily as well.
Anticipated similarities exist between the Roman copy of Doryphorus and Donatello’s David, for the former replicates a product of Classical Greece while the latter is reminiscent of this artistic epoch (The Renaissance was a “re-birth” of this classical form). However, though formal qualities of Classical Greece may be present in David, they are uncharacteristically fashioned; therefore, major degrees of difference are established in terms of characterization. While Doryphorus is a typical example of reconciling idealism and naturalism, Polykleitos does not provide a depth of narrative subtext to this figure. On the other hand, Donatello overtly characterizes David through his effeminate if not androgynous form to deliver a powerful narrative (Duro). From the stance and posture of each sculpture to the use of nudity, Polykleitos’s Doryphorus and Donatello’s David present similarities accountable for in a historical context; however, the obvious structural differences must be
Dupuytren’s Disease, also known as Dupuytren’s Contractures, palmar fascitis, Viking Disease, or palmar fibromatosis, is a hand deformity that usually develops slowly, usually over years. This disease is caused by the thickening and contraction of the palmar fascia. As the disease progresses, nodules progress to form longitudinal bands referred to as cords on the palmar fascia, and the finger gradually loses extension, with contractures that draw one or more fingers into flexion at the metacarpophalangeal (MCP) joint, proximal interphalangeal (PIP) joint, or both of these joints.
...s to interfere with bonding to the receptors. The final possibility uses CNP, which downregulates the activation in MAP kinase pathways in the chondrocytes (4).
The two different alleles present in the could be due to the effect of evolution and natural selection because the same can be found in chimps.4 The PV92 locus does not code for any protein but rather involves an Alu element that is 300-bp long. A person with the “+” allele would have the Alu element, making that sequence longer while those with the “-“ allele don’t have the element and would have a shorter sequence. This locus can be found on chromosome 16.3 There are multiple Alu sequences found among primate genomes but there are human specific sequences such as the one found on the PV92 locus.1 In the experiment, student DNA was collected from cheek cells and PCR was used to target the loci and amplify the region of DNA. In the taster gene, after amplification, a restriction digest was performed to differentiate between the two alleles. The digest was able to show differentiation because those with the “T” allele would have two bands from gel electrophoresis and those with “t” would have one band because the restriction enzyme doesn’t cut it.
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
There are many factors involved in the complexity of Sandhoff’s history, causes, and inheritance. Drs. Horst Jatzkewitz, Hartmut Pilz, and Konrad Sandhoff made the discovery of this disease in 1965. Originally these men were observing enzymes, and they found a new case of Tay-Sachs. It was then classified as an abnormal form of Tay-Sachs, but it was called Sandhoff due to the fact Konrad was given the most credit for its discovery. The determined cause of the disorder is an absence or reduced amount of the Hex A and Hex B enzyme. Without these, lipids abnormally build causing damage to cells. As a result of Sandhoff being an autosomal recessive disorder located on the 5q13 chromosome. Both parents have to be a carrier in o...
Monotremes are mammals that are oviparous, or egg-laying. There are only 3 extant species of monotremes: the playtpus and two species of echidna. Their reproductive systems are highly specialized to facilitate both the production of eggs and milk. The male tract is quite simple. The female tract has qualities similar to those of birds, though female echidnas also possess pouches. The monotreme egg is also very specialized and somewhat similar to a reptile egg. Platypuses and echidnas have very different behaviors when it comes to mating, but their genetics are quite similar. Monotremes possess a few large chromosomes and several unpaired microchromosomes. The descendants of the first radiation of mammals, monotremes have characteristics of both placentals and marsupials, while still retaining characteristics of reptiles and birds in a combination all their own.
NIH, National Center for Biotechnology Information. (2015). Cyclothymic Disorder, ncbi.nlm.nih.gov Web. 22 July 2015. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002517
Segal, E. A., Cimino, A. N., Gerdes, K. E., Harmon, J. K., & Wagaman, M. (2013). A
A PCR was performed and there was a band at for the tfdA gene at the same length as the positive control and no band in the negative control.
parts to it; the choroids, ciliary body, and the iris. The choroids is what provides
The cytoskeleton is a highly dynamic intracellular platform constituted by a three-dimensional network of proteins responsible for key cellular roles as structure and shape, cell growth and development, and offering to the cell with "motility" that being the ability of the entire cell to move and for material to be moved within the cell in a regulated fashion (vesicle trafficking)’, (intechopen 2017). The cytoskeleton is made of microtubules, filaments, and fibres - they give the cytoplasm physical support. Michael Kent, (2000) describes the cytoskeleton as the ‘internal framework’, this is because it shapes the cell and provides support to cellular extensions – such as microvilli. In some cells it is used in intracellular transport. Since the shape of the cell is constantly changing, the microtubules will also change, they will readjust and reassemble to fit the needs of the cell.
The cilia found in epithelial cells means that substances can pass easier and quicker. Squamous epithelial tissue is very thin and also very flat. It is usually one cell thick and is therefore in contact with the basement membrane. Because it is so thin, it is brilliant at diffusion and filtration, and it is also found in locations where these functions are essential. Squamous epithelial cells also have an egg-shaped nucleus. Columnar epithelial tissues are elongated and column-shaped. They occur in one or more layers. This type of epithelial tissue enables movement of molecules due to the simple thin structure and therefore allows easy exchange. The nucleus is also elongated and are normally located near the base of the cells. Columnar epithelium makes up the lining of the stomach and also the lining of the intestines. Some of which are specialised for sensory reception, for example the nose, ears and taste buds. Unicellular glands are found between the columnar epithelium and the duodenum. They secrete mucus, lubricating the surface of cells. Cuboidal epithelium tissues are a cuboidal shape, and each have a circular nucleus in the middle of them. This type of epithelium tissue is found in the
Myerowitz, Rachel. (1997). "Tay–Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene". Human Mutation 9 (3): 195–208.