Opitz syndrome is a disease characterized by a defect along the ventral midline of the human body. Some of these abnormalities include a cleft lip, heart defects, wide-spaced eyes (hypertelerism), laryngeal cleft, agenesis of the corpus callosum, and hypospadias. An important irregularity in patients is the effect disrupted proteins have on the corpus colloseum. The corpus colloseum is a neuronal component that separates the two halves of the brain. This protein is imperative because it controls MID-1 or the midline. The MID-1 protein also forms homodimers, which associate with microtubules in the cytoplasm, especially during fetal development. Therefore, MID-1 is involved in formation of multiprotein structures, acting as anchor points to …show more content…
I found this topic interesting and informative because it defined the multiple ways that a protein could be affected in the body and lead to a disease. While some people find biochemistry as a whole intimidating, I find it fascinating that pathways and complexes can interconnect and link. Interconnections can cause more than one result. This concept helped me understand how a disease, such as Opitz syndrome, is so challenging to cure. Curing the effects of B-box 1 or 2 may or may not lead to realignment of microtubules. There could be downstream effects that take place in other areas. As a result, hard work and a plethora of experimentation is necessary to be able to isolate pathways and cure this troubling disease.
Question 2: (29 pts) In the article, “Effect of an Ala81His Mutation on the Met80 Loop Dynamics of Iso-1-cytochrome c,” figure 1 includes a portion of the protein sequence.
a. (5 pts) What is the difference between using the terms, identity and homology, when comparing protein sequences.
• In terms of comparing protein sequences, “identity” means that the protein sequences have identical amino acids in their sequence. The percent of identical amino acids indicates the percent of “identity” between amino acids.
• In terms of comparing protein sequences, “homologous” means similarity between protein sequences. The proteins may be even more homologous because of similar – but not identical – residues. Often, homology is
D1S80 locus is placed on the short arm of the chromosome 1. This locus does not code for the arrangement for protein, yet it codes for a series of tandem repeats of 16 bp in human. Distinctive number of this allele has different number of repeats. These quantities of repeats are exceptional to every human. Primer
3. What needs to land on the pink part in order for the gene to be expressed? RNA Polymerase
5. List and differentiate between the two types of frameshift mutations. In frameshift mutation, bases are inserted or deleted and this messes up the reading frame (which is read in sets of 3--codons that encode certain amino acids)
The concept of identity is usually described as self-image the person we thing we are and self-esteem or self worth, which is concerned with the worth we attach to that
Did cytochrome c or any other protein bind to the anion exchange column? (Explain the reasoning behind your answer).
Some are known and some are not, the known ones that cause defective versions of the enzyme cause early death
On a molecular level protein structures and gene sequences is used to determine the evolutionary relationship with the random mutations in our genes. Our genes contain instruction to create protein which
For this lab experiment, we used a cDNA library (complementary DNA library). A cDNA is the synthesis of a double-stranded DNA from a single- stranded-RNA template via reverse transcription (1). Therefore, a cDNA library represents all the cloned cDNA fragments. In this experiment, we needed to determine cDNA sequences in Drosophila melanogaster that were related to a homologous protein in human that caused the diseases. Carrying out this experiment lead us to four research questions: what drosophila protein is identified via the DNA sequence in the cDNA plasmid and what is the role of this protein in drosophila? What human proteins and/or protein domains show homology with cDNA sequences prepared from a Drosophila melanogaster cDNA library? What is the function of our proteins in humans? How might studying the function (or loss of function via mutations) of these proteins in Drosophila contribute to our understanding of mechanisms controlling human diseases involving this protein? (1) To do so, we used E. coli as a host to store plasmid DNA containing Drosophila cDNA. The cDNA was sequenced and
Homologous means “having the same relation, relative position, or structure, in particular.”, analogous means, “comparable in certain respects, typically in a way that makes clearer the nature of the things compared.”, and vestigial means, “forming a very small remnant of something that was once much larger or more noticeable.”
Evolution is the process by which animals adapt themselves to the internal and external change of their environment. Antibodies proteins from serum of different cow, sheep, goat, horse, and chicken were separate into fragments by gel electrophoresis to compare their similarity. Results show that the animals that share the most similarities banding pattern were the Goat and sheep, while the chicken, because it is a reptile, shows to be the most distant in the animals’ phylogeny.
Biologist call them cryptic species. Animals can look the same but be completely different on the inside. Example is An orangutan , and a monkey, they look the same and are similar but two different animals.The exact definition for a “cryptic species” states that it is an individual that is morphologically identical to each other but belong to a different species. Another way the different species are determined are through bone structure. Anatomy is the study of the structure of organisms. Anatomists look at how an animal's bones,muscles, and organs are shaped and fit together. Biologist compare anatomies of different species to figure out how closely related they are. The more similar a pair of organisms are, the more likely it is that they shared a recent common ancestor from which since they were alive, they have both evolved. This is how the first theory of evolution came about because animals looked to be the same but had different bone structure. Animals change and adapt to their surroundings therefore that's why there are so many different
The way that this process works is by using heat such as the technique ‘melting’ to separate the two strands of the double helix from the different species. These two strands shown from the two different species are then mixed and cooled down, however the single strands only take this part. As they are cooling down, the single strands re-bond at varying degrees in temperature. If there is a greater the number of bonds between the strands, its evident that there is a greater the degree of genetic similarity between the two species.
However manipulations like mutation, knockout and overexpression of genes either re-affirm their role or prove otherwise. I therefore recommend that such manipulations be utilized in future works to throw more light on the different outcomes that relate to those manipulations with regards to the OE progenitors
1. Identity is people's concepts of who they are, of what sort of people they are, and how
Authentication is a process of one-to one comparison, rather than a mass searching process. Identification is a process of checking for a particular identity in the database available.