CREB-1 (Ca2+/cAMP response element binding protein-1)
Ca2+/cAMP response element binding (CREB-1) protein is a transcription factor that regulates cell growth, homeostasis and survival. A TM phosphorylates CREB at
Ser111 in response to IR. This, in turn, triggers CK-2 dependent phosphorylation of
Ser108 and CK1 dependent phosphorylatio~ ofSer114 and Ser117. The phosphorylation of Ser 114 and Ser 117 by CK1 renders CREB permissive for ATM dependent phosphorylation at Ser121 (Shanware et al., 2007). Ser121 phosphorylation causes a decrease in CREB transactivation potential and reduces interaction between CREB and its transcriptional coactivator, CREB binding protein (CBP). Deregulation of ATM-CREB pathway may be a contributing factor to neurodegeneration seen in A-T patients (Dodson and Tibbetts, 2006; Shi et al.,
2004).
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FANCA (Fanconi anemia, complementation group A)
Fanconi anemia, complementation group A, also known as F ANCA, is a protein which in humans is encoded by the F ANCA gene, mutations in which are the most common cause of Fanconi anemia. F ANCA is phosphorylated after DNA damage and localizes to chromatin. ATR phosphorylates FANCA at Ser1449 after DNA damage but not in S-phase. This phosphorylation is further required for the ubiquitination ofF ANCA and regulates chromatin organization by FA proteins.
Hence Ser1449 mutant fails to completely correct a variety ofF A associated phenotypes (Collins et al., 2009; Wang and D'Andrea, 2004).
FANCD2 (Fanconi anemia group D2 protein)
Fanconi anemia group D2 protein is monoubiquitinated in response to
FOP occurs randomly and is not inherited. Experts believe that one cause of fibrodysplasia ossificans progressiva is born with mutations in the ACVR gene what provides the body with instructio...
Racism, a plague in our society that has infected our society, and still does today, has been rooted by the premise of Darwinian evolution. Racism existed long before Charles Darwin made his mark in history; however, in the book One Race One Blood, the authors explain how there is a very close relationship between the theory of evolution and what we know today as racism. The authors intent of this book is to realize the effects of a specific ideas that has shaped racism. Mr. Ken Ham describes ideas as being seeds, “…they might seem small; they might seem insignificant; they might even go unnoticed by all expect those who hold them in the moment…” (7). Charles Darwin’s idea (or seeds) of his evolutionary has taken root and made its way into public schools, the government, and even our churches. Although, racism did not originate with Darwin, Ken Ham claims that, “he did more than any other person to popularize it” (22). His evolutionary ideas have fueled racism and this is what racists use to justify their hatred toward those who are different from them (8).
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.
-Reilly Philip. Is It In Your Genes. Cold Spring Harbor Laboratory Press. 2004: 223-228. Print
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Cardiofaciocutaneous syndrome may be generated through various genetic mutations. As mentioned before, there are four genes that can cause this condition to be brought about in an individual. The most frequent mutation of these is the BRAF gene, because it is responsible for approximately 75 to 80 percent of each case of the syndrome. The two genes, MEK1 and MEK2, are very much alike and together are the result of 10 to 15 percent of ...
Yearly, around six hundred to nine hundred people are diagnosed with Aplastic Anemia within the United States. Aplastic Anemia is a autoimmune hematological disorder that causes pancytopenia which is a reduction in major blood components, namely, erythrocytes, leukocytes and platelets. This disease has been labelled as a type of bone marrow failure, that is often due to not one but a variety of disorders that occur simultaneously. Aplastic Anemia can therefore be defined as a bone marrow disorder that is often rare, non contagious, and can often be life threatening.
Sickle cell anemia is an inherited disease of red blood cells. Normally red blood cells contain a protein called hemoglobin A, which carries oxygen to all the organs in the body. With sickle cell anemia, however, the body makes a different kind of protein, called hemoglobin S.
According to the details given in case study, Ms. A has iron deficiency anemia. Iron deficiency anemia is the most common type of anemia. It is a condition where the blood lacks enough red blood cells (Clark, 2008). When there are a low number of red blood cells, it makes transportation of oxygen to parts of the body very difficult. Iron deficiency is type of anemia due to the lack of iron in the body. Without the proper amount of iron in the body, it cannot produce enough hemoglobin and since hemoglobin is the main carrier of oxygen, low levels of it can lead to tiredness and shortness of breath (Copstead, Banasik, 2010).
Sickle cell anemia is a blood disorder that is inherited from both parents in which the body produces abnormally shaped red blood cells. In sickle cell anemia, the hemoglobin in red blood cells links together; resulting in the red blood cells to become rigid and a C-shaped. These deformed cells block blood and oxygen flow in blood vessels. Sickle cells deteriorate quicker than normal red blood cells, which results in anemia.
Canavan disease (CD) is fatal neurological disorder. CD is progressive disease caused by an inherited genetic abnormality affecting the growth of the myelin sheath, classifying it as an autosomal recessive leukodystrophy. This disease is linked to mutations in the gene which directs the enzyme aspartoacylase (ASPA) allowing a buildup of N-acetylaspartic acid (NAA) in the brain. Deficiency in this activity leads to spongiform degeneration of the white matter (myelin) of the brain. Myelin is essential for the central nervous system (CNS). In patients with CD symptoms vary, but generally include rapidly increasing head circumference, lack of head control, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness.
The problem is that sickle cell anemia affects about 72,000 Americans in the United States. Sickle cell anemia is an inherited disease in which the body is unable to produce normal hemoglobin, an iron-containing protein. Abnormal hemoglobin can morph cells that can become lodged in narrow blood vessels, blocking oxygen from reaching organs and tissues. The effects of sickle cell anemia are bouts of extreme pain, infectious, fever, jaundice, stroke, slow growth, organ, and failure.
but no specific gene has been identified as a cause for it. It is quite rare. It usually
Thalassemia is basically a name for similar groups of inherited blood diseases that involve missing or abnormal genes regarding the protein in hemoglobin which is the red blood cells that carry oxygen throughout the body. I will discuss the different types of Thalassemia, how Thalassemia is diagnosed, and the treatments available. I will also discuss the complications and side effects of the treatments, the disease’s causes and effects, and how it is more dominant in some parts of the world than others. Thalassemia is a blood disorder which means the body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen throughout the body and having less hemoglobin leads to anemia. Alpha globin and beta globin are the proteins that create Hemoglobin. A defect in the gene that helps control production of alpha or beta goblin leads to Thalassemia. Fewer blood cells leads to anemia, which is the common culprit in Thalassemia.
There are several different types of anaemia with different symptoms and effects on the human body most of them have very similar impacts on health. Some people inherit the disorder whilst some grow into it. It can be diagnosed at the age of two or during the younger years in a humans life. The causes of this disorder begin with during pregnancy. Some of the common types of anaemia is: