freshwater water fleas (Daphnia) develop without hemoglobin (Hb) and are whitish when living in well-aerated water but produce abundant Hb and are red in O2- depleted water. Explain how each of these phenotypes could be advantageous
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- In rare instances, B cells can be found that have two immunoglobulin light chain alleles, both of which are rearranged in frame, and can encode functional light chain proteins. Yet, on the surface of the B cell, only one of the two light chain proteins is detected in the membrane-bound immunoglobulin receptor. The reason these rare cells have two functional light chain rearrangements but only express one of the two light chains as part of the B-cell receptor is: One of the two light chains is formed from rearrangement of a V gene segment that is a pseudogene. One of the two light chain proteins doesn’t form a stable complex with the heavy chain expressed in this cell. One of the two light chain alleles is not transcribed efficiently, and produces only low levels of protein. One of the two light chain alleles uses a V gene segment that is not targeted very often by the RAG recombinase. One of the two light chains is rapidly degraded after synthesis due to improper folding.Scientists studied gene expression and phenotypes of the YJL213W gene in yeast to determine how phosphate was transported based on two different genotypes. The PHO84 locus of the gene is a phosphate transporter and the PHO4 locus is a regulator of genes that respond to phosphate availability. Two genotypes were compared and are shown in the graph: BY (solid black line, triangles) and RM (dashed line, Xs). Which of the following statements describes the correlation between the genotype, phosphate concentration, and YJL213W expression based on the data? A - In RM genotypes, a lower PHO4 activation level led to less YJL213W expression and a lower rate of phosphate transport. B - In RM genotypes, a greater PHO4 activation level led to less YJL213W expression and a lower rate of phosphate transport. C = In BY genotypes, a lower activation level of PHO4 led to more YJL213W expression and a higher rate of phosphate transport. D - In BY genotypes a greater activation level of…In squirrels, individuals that are heterozygous for the mutant LDL receptor gene( Fa) begin to experience heart attacks at the squirrel equivalent of the 30’s and 40’s in humans, while individuals that are homozygous for the mutant LDL receptor allele experience heart attacks much earlier. Closer examination reveals that the hepatocytes of the homozygous normal squirrels contain ONLY normal receptors. In the hepatocytes of the heterozygous squirrels, 50% of the receptors are of the mutant type, and fail to bind the LDL cholesterol, while the other 50% are normal. In individuals homozygous for the mutant LDL receptor allele, only mutant receptors are present. NAME and DEFINE the genetic phenomenon observed here.
- In humans, what other homeobox genes have spatial expression patterns similar to those of HOXA13?Sickle cell anemia patients suffer from a distorted red blood cell shape and an anemic condition as a result of a genetic mutation in the HBB gene, which codes for the hemoglobin β subunits. This mutation changes a Glu to a Val at position 6 in the protein, and these patients express two alleles (one from each parent) with this mutation. When individuals inherit just one copy of this mutated gene, they are considered carriers, and have very few symptoms. Based on the quaternary structure of hemoglobin, what can you predict about the assembly of hemoglobin in sickle cell anemia patients versus carriers of the sickle cell trait? a. In sickle cell anemia patients, the α globin subunits have complementary mutations to ensure the quaternary structure of hemoglobin is attained. b. In sickle cell anemia patients, 100% of the hemoglobin is fully functional, whereas in those that carry the trait, there is no functional hemoglobin assembled. c. In individuals with the sickle cell…How can a single nucleotide insertion in the beta globin gene generate a phenotypic change in the ability of the red blood cell to transport oxygen?
- Spherocytosis is an inherited blood disease in which erythrocytes (red blood cells) are spherical instead of biconcave. This condition is inherited in a dominant fashion, with ANK1 (the nonfunctional mutant allele) dominant to ANK1+. In people with spherocytosis, the spleen recognizes the spherical red blood cells as defective and removes them from the bloodstream, leading to anemia; this removal occurs with different efficiency in different people. Some people with spherical erythrocytes suffer severe anemia, some have mild anemia, and others do not have any symptoms of anemia. When 2400 people with the genotype ANK1/ANK1+ were examined, it was found that all of them had spherical erythrocytes, 2250 had anemia of varying severity, and 150 had no anemia symptoms. The ANK1/ANK1 genotype is never observed. Which evidence suggests that spherocytosis is incompletely penetrant?A mutation in the promoter region of the gene for the beta-globin can cause betathalassemia, a hereditary condition which causes anemia. Why would mutations in the promoter region lead to low levels of hemoglobin?Achondroplasia is a form of dwarfism in humans. It is caused by a mutant allele of the fibroblast growth factor receptor 3 gene ( FGFR3) that produces an overactive protein. Having one copy of the mutant allele results in dwarfism. Two copies of the mutant allele results in death before birth. If a man with Achondroplasia marries a woman who is Sickle Cell Anemia carrier and they have a child together, what is the probability that their child will Achondroplasia AND be a Sickle Cell Anemia carrier? ½ 2/3 ¼ 1 ½ 1/16
- How does gene expression change over time for the polypeptide components of hemoglobin?Are there any globin pseudogenes in mammals? Explain.Muckle–Wells syndrome is an autosomal dominantly inherited disease due to mutations in NLRP3. Individuals with this disease suffer from episodes of fever, as well as urticarial rash, joint pains, and conjunctivitis. What is the explanation for the beneficial effects of anakinra (IL-1 receptor antagonist) treatment in these patients?