TBX5 is a member of the T-box family, a family of transcription factors (Hatcher et al., 2001; McDermott et al., 2004; Li et al., 1997). The gene encodes TBX5 protein, which regulates and activates genes critical for heart and upper limbs development during morphogenesis (Horb et al., 1999; Lin et al., 2009) by binding to the major and minor groove of target DNA (Basson et al., 1999).
TBX5 interacts with Nkx2-5 and gata4:
As mentioned already, TBX5 is a transcription factor that activates cardiac transcription. In fact, a study shows that this is done by interacting and acting cooperatively with Nkx2-5—another transcription factor that is critical for heart development in early embryos (Posch et al., 2010). They bind physically and form a ternary complex in vivo and in vitro (Bruneau et al., 2001). The activation requires both the N-terminal, T-box domain of Tbx5 and homeodomain of Nkx2-5 (Hiroi et al., 2001). Hiroi et al (2001) study further examines the function associated with the interaction between TBX5 and Nkx2-5 by “using the yeast two-hybrid system”. The authors observe that only TBX5 and Nkx2-5 can bind and activate the “cardiac-specific Nppa promoter”(which contains gata4 binding site, and its importance will be emphasized shortly) (Hiroi et al, 2001), and none of the other transcriptional factors—Hoxb6 and brachyury protein—can interact with TBX5 or Nkx2-5 and activate Nppa (Hiroi et al, 2001). It should also be noted that the levels of TBX5 would not affect Nkx2-5 levels (Goetz et al., 2006). Nonetheless, their results indicate that cardiac development require the interaction of TBX5 and Nkx2-5 specifically, and might cause HOS phenotypes in TBX5 mutants. This is because when there are insufficient levels of TBX5, Nk...
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...expression of TBX5, and both transcription factors are required for upper limb development (Pizard et al., 2005). Furthermore, defects in electrophysiology seen in heterozygous mice imply that mutations can cause first and second degree AV block (Bruneau et al., 2001). All of these phenotypes are also observed in human HOS patients, and these results reveal the fact that homozygous TBX5 mutants will have a more severe phenotype than heterozygous mice. As noted earlier, CX40 is important for upper limb development and that ANF is downstream of gata4. Furthermore, gata4 acts cooperatively with TBX5 to activate ANF. Hence, when the expression of TBX5 and gata4 decreases in heterozygous mice, ANF would decrease as well, and may lead to the inability to form heart tube. Which then also explains why cardiac crescent formation was not affected, but the linear heart tube.
On a cellular lever, HCM can cause the cells to become disorganised and lost. Under a microscope, a normal Cardiac Muscle cell appears parallel and organised, while a cell affected by HCM will appear irregular and disorganised. This disorganisation can create changes and altercations in the signals sent and received through the lower chambers of the heart, which in turn can lead to an abnormal heart rhythm, known as ventricular
“Hypoplastic left heart syndrome accounts for 9% of all critically ill newborns with congenital cardiac disease, causing the largest number of cardiac deaths in the first year of life.(2) ” HLHS is a severe heart defect that is present at birth. HLHS combines different defects that result in an underdeveloped left side of the heart. This syndrome is one of the most challenging and difficult to manage of all of the congenital heart defects. Multiple portions on the left side of the heart are affected including the left ventricle, the mitral and aortic valve, and the ascending aorta. These structures are greatly reduced in size, or completely nonexistent causing the functionality of the left heart to be reduced, or non-functional all together.
Miller, K. R., & Levine, J. S. (2010). Miller & Levine biology. Boston, Mass.: Pearson.
After seeing this, they tested out if DII is responsible for the down regulation of Ubx/Abd-A. They used double-label experiments using antibodies against butterfly DII and Ubx/Abd-A antibodies and performed them. The activation of DII in the proleg trails repression for Ubx and Abd-A expression, which showed that repression of BX-C gene, is the initial event. When DII expression abdominal segments of drosophila embryo expression is repressed due Ubx and Abd-A, the abdominal limb formation in but...
...ape formation, movement of cardiac progenitor cells, heart tube, and heart function. A novel development of more specific assays, advance genetic screen efforts will provide new knowledge on cardiac development in the following years. Additionally, because of the zebrafish distinct features and its similarities to vertebrae, the zebrafish might become many researchers preferred model organism to study many mammal organs. Recently, the zebrafish has been used to study mechanisms that cause human cardiac and liver diseases and to model human hereditary and developed cardiac diseases. Due to the increase in sequencing efforts, the developing interest to study human liver and cardiac diseases. Also, the increase of resource and the more availability of the zebrafish model used in clinical and basic researchers involved in studying the liver, as well as cardiac diseases
The purpose of this paper is to establish an understanding of the rare heart disease Tetralogy of Fallot. Tetralogy of Fallot is a congenital heart defect that is present at birth, with the structure of the heart being problematic. It changes the normal flow of blood through the heart. The aspects of it being explained are the overall disease and symptoms of it. Secondly, the long term and short term effects corresponding to the particular disease. Lastly, the causes, prevention, and statistics of the disease. This research will provide an insight to the disease and all aspects and forms. It will allow a better understanding on how to cope with such disease or better prepare us in a case where this disease may be present and have to be dealt with.
If man and the woman both had the same communication ways they would be more successful in marriage. Many of the communication issues are brought up in the article “Sex, Lies, and Conversation by Deborah Tannen.” Tannen states that men and women argue with one another over communication which leads to marital problems and divorce. Men and women have different viewpoints on communication. Women see bad communication as the one of the major reasons for divorce. Also the way men and women communicate are very different. Men are very different than women they do not like to communicate as much like women. Men don’t talk about their problems and women love to talk about them. Communication is seen as one major cause leading to a relationship failure. When couples get married the women is always looking for a good comuincator.
Human behavior in the social environment presents a multidimensional composite of person, environment, and time. As per Hutchinson (2008), “Person, environment, and time interact dynamically. Relationships are reconfigured as the multiple influences of human behavior ebb and flow” (p. 9). An analysis of human behavior in the social environment concerns examining the biological, psychological, and spiritual person; as well as, environment, culture, dyads, families, and communities. This paper will serve as an analysis and comparison of two films through the lens of human behavior in the social environment. A biopsychosocial framework will be utilized to assess and determine optimal treatment interventions for a selected character of each film. Hutchinson (2008) describes a biopsychosocial approach, “In this approach, human behavior is considered to be a result of interactions of integrated biological, psychological, and social systems” (p.11). Additionally, Ericson’s stages of psychosocial developmental in relation to chosen characters from the films “Rachel is getting married” and “Mother and Child” will be discussed.
...s in these target organs at critical developmental periods would result in defects of these organs (5).
Coach Norman Dale embodied a number of personal characteristics which enabled him to be the quality leader he was in the movie Hoosiers. His toughness, optimism, motivation, farsightedness, and self confidence assisted Coach Dale in gaining the loyalty of the team and the attention of the town. They also helped him to change the losing ways of the early team into the state champion team they ended up to be. Additionally, a number of environmental factors played a role in his success. The almost religious fervor of basketball in Indiana, the quasi-anarchist environment of the town’s men, and the fact that Hickory was a small town all played vital roles in Coach Dale’s success.
Miller, K. R., & Levine, J. S. (2010). Miller & Levine biology. Boston, Mass: Pearson
Viringipurampeer I. A., Ferreira T., DeMaria S., Yoon J. J., Shan X., Moosajee M., Gregory-Evans K., Ngai J., Gregory-Evans C. Y., (2012) Pax2 regulates a fadd-dependent molecular switch that drives tissue fusion during eye development, Human Molecular Genetics, Vol. 21, No. 10 2357–2369
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 ...
Raven, P. H., Mason, K. A., Losos, J. B., Singer, S. R., & Johnson, G. B. (2011). Biology (9thth ed., pp. 418-419). New York City, NY: McGraw Hill.