Q: Which of the following phenotypes is an example of a temperature-sensitive conditional mutation?…
A: Introduction: Mutation refers to the alteration in the nucleotide sequence of the genome in an…
Q: Ehler-Danlos syndrome is a rare disorder caused by a mutation ina gene that encodes a protein called…
A: Sir Gregor Mendel was a priest and a teacher who did the famous hybridization experiment on garden…
Q: Below are the DNA sequences that encode the first eight amino acids for five alleles of the Adh…
A: Genes contain the information that is required for the translation of a functional protein inside…
Q: In considering the formation of the A–P and D–V axes in Drosophila, we noted that, for mutations…
A: Maternal effect genes are the ones that are contributed to the egg by females.
Q: Many aspects of gene function can be nicely explained with the one- gene-one-enzyme hypothesis,…
A: Genes are a set of instructions that determine what the organism is like, its appearance, how it…
Q: Bloom's Syndrome is an autosomal recessive disorder due to mutations in a helicase protein. Some of…
A: Bloom syndrome is an inherited disorder characterised by low height, a sun-induced skin rash, and a…
Q: Researchers have identified a gene in humans that (when mutated) causes tremors and unstable walking…
A: DNA is the genetic material in most living organisms. It is the information hub of the cell that…
Q: In humans, discoloration of the teeth is controlled by the dentine sialophosphoprotein (DSPP) gene…
A: Recessive gene traits are the ones which are expressed only when two copies of the recessive genes…
Q: Ehler-Danlos syndrome is a rare disorder caused by a mutation ina gene that encodes a protein called…
A: The Ehler-Danlossyndrome is a disorder caused by a mutation in the gene codes for the protein…
Q: Canavan disease in an autosomal recessive disorder caused by mutations in the gene that codes for…
A: Given the day disease is an autosomal recessive disorder. We can solve this by assuming that the…
Q: In all mammals, insulin growth factor 2 is expressed from only the allele that is inherited by one's…
A: Igf2 stands for insulin growth factor 2. It is responsible for maintaining the growth in the tissue…
Q: What are some of the explanations for the finding that humans are a much more complex organism than…
A: Humans are more complex than roundworms.
Q: Please answer fast Write two different partial diploid genotypes where Lac Z is produced…
A: The lactose operon is an example of inducible operon in which the expression of downstream genes…
Q: Sandhoff disease is due to a mutation in a gene that encodes a proteincalled hexosaminidase B. This…
A: Step 1 Genetic disorders are defects that are caused by a genetic mechanism. The genetic character…
Q: Lesch-Nyhan syndrome is due to a mutation in a gene that encodesa protein called…
A: Pedigree or family tree is a representation of an individual in a family or close relatives that…
Q: The following system models the exchange of nutrients between mother and fetus in the placenta:…
A: The mechanism below simulates the flow of nutrients between the mother and the fetus in the womb.…
Q: Two related forms of muscular dystrophy—Duchenne muscular dystrophy (DMD) and Becker muscular…
A: Muscular dystrophies cause muscle weakness and atrophy in the skeletal muscles exclusively in males.…
Q: What changes, if any, would you predict would occur in the pigmentation of Drosophila melanogaster…
A: The relatively simple morphological trait that helps in the mapping of the genetic basis of…
Q: A human gene called the β-globin gene encodes a polypeptide that functions as a subunit of the…
A: A. Both the genes HbA and HbS are same at the molecular level except at the 6th position which…
Q: In humans, discoloration of the teeth is controlled by the dentine sialophosphoprotein (DSPP) gene…
A: The normal colour of teeth is white hue color, a slightly yellowish layer for protection.
Q: The pedigree here shows the inheritance of a human disease knownas familial hypercholesterolemia.…
A: Pedigree analysis can be described as the record of a special genetical character or a disorder for…
Q: For three years, Gunther Schlager and Margaret Dickie estimated theforward and reverse mutation…
A: If a mutation converts a functional gene into a non-functional gene, it is known as forward…
Q: You learned in Problem 21 in Chapter 7 that theneurodegenerative disease ALS can be caused by…
A: Amyotrophic lateral sclerosis (ALS) is a paralyzing neurodegenerative disease which is usually fatal…
Q: Which of the following best characterizes human mitochondrial mutations?` They are sex linked.…
A: Answer : Option 'C' are correct : They are pleiotropic
Q: people with osteogenesis imperfecta have a dominant mutation in one of the two genes that produce…
A: Mutation - Mutation is defined as the sudden change or alteration in the DNA sequence. Mutation is…
Q: What are paralogous and orthologous genes? What are some of the explanations for the finding that…
A: Thus, a gene is a fundamental unit of inheritance, carrying coded information associated with a…
Q: On the left side of this figure, explain why the offspringdoes not have Prader-Willi syndrome but…
A: Genomic imprinting is a phenomenon of marking a gene with the information regarding the parental…
Q: The HbβS(sickle-cell) allele of the human β-globingene changes the sixth amino acid in the…
A: Sickle cell anemia is a blood disorder in which an improper folding of hemoglobin occurs. In this…
Q: Gene A, which encodes alcohol dehydrogenase, is labeled with a red fluorophore in a FISH experiment…
A: Introduction :- FISH( fluorosecent in situ hybridization ) is a technique in which a DNA probe ,…
Q: Most black bears (Ursus americanus) are black or brown in color. However, occasional white bears of…
A: As given in the question, allele that encodes for the black or brown color (A) is dominant over the…
Q: What
A: Genomic imprinting:- A phenomenon in which expression of an allele in offspring depends on whether…
Q: Phenylketonuria is one of the most common recessive genetic disorders in humans. Infants with PKU…
A: Given that, phenylketonuria is one of a recessive genetic disorder characterized by the absence of…
Q: In humans, discoloration of the teeth is controlled by the dentine sialophosphoprotein (DSPP) gene…
A: DSPP gene that is responsible for discoloration of the teeth is present on chromosome number 4. I…
Q: In humans, the glucose-6-phosphate dehydrogenase (G6PD) gene involved in sugar metabolism is…
A: When a gene mutation (allele) is found on a sex chromosome (allosome) rather than a non-sex…
Q: a. On the basis of this pedigree, what is the most likely mode of inheritance for the disease?…
A: Dent disease is a rare genetic disorder related to the kidney. This disease is characterized by the…
Q: Achondroplasia is a form of dwarfism in humans. It is caused by a mutant allele of the fibroblast…
A: If a man with Achondroplasia marries a woman who is Sickle Cell Anemia carrier and they have a child…
Q: Our understanding of maternal effect genes has been greatly aided by their identification in…
A: A maternal effect is a phenomenon where the nuclear genotype of a mother is expressed in the…
Q: In humans, discoloration of the teeth is controlled by the dentine sialophosphoprotein (DSPP) gene…
A: The normal colour of teeth is white hue color, a very slight yellowish layer for protection.
Q: Mutating the gene Transformer (tra) in Drosophila that is chromosomally XX leads to the development…
A: A mutation is a change in an organism's DNA sequence. Mutations can occur as a result of mistakes in…
Q: the function of skeletal muscles used for movement and cardiac muscles used for heart beating.…
A: Mutations are the spontaneous changes in DNA molecule ultimately changing the Amino acid sequence…
Q: All of the following human genetic diseases exhibit maternal inheritance EXCEPT: A. Leber's…
A: Maternal inheritance is a pattern in which the genes from the mother is inherited to the offsprings.…
Q: In squirrels, individuals that are heterozygous for the mutant LDL receptor gene( Fa) begin to…
A: In the case mentioned above, the squirrels experience heart attacks quite early when they have both…
Q: In humans, the glucose-6-phosphate dehydrogenase (G6PD) gene involved in sugar metabolism is…
A: Genes are the basic unit of heredity. One gene has two alleles. Each allele is contributed by each…
One of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here:
https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451
Please navigate to the link above and use the information and link-outs from the page to answer the following question.
What is the NCBI accession number (including the version) of the RefSeq Match for the first transcript (CACNA1S-201)?
Trending now
This is a popular solution!
Step by step
Solved in 2 steps
- One of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and ensure that you click to reveal the transcript table. Then use the information in the table to answer the following question. PLEASE GIVE YOUR ANSWER AS A NUMBER ONLY, NO UNITS What is the size in base pairs of the CACNA1S transcript named CACNA1S-202? Answer: The size of the CACNA1S transcript named CACNA1S-202 isOne of the two genes known to be mutated in cases of Hypokalemic periodic paralysis (which is inherited in an autosomal dominant pattern but known to affect males more often than females) is the calcium voltage-gated channel subunit alpha1 S (CACNA1S). What is known about the gene is recorded here: https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000081248;r=1:201039512-201112451 Please navigate to the link above and use the information and link-outs from the page to answer the following questions ANSWER ONLY IN UPPERCASE LETTERS, NO UNITS: Using the left-hand menu to view the sequence for CACNA1S, what are the last three nucleic acid bases of exon 1?The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above to answer the following question: Using the left-hand menu to view the sequence for IGLL1, what are the last 12 nucleic acid bases of exon 1?
- The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above and click, 'show transcript table', to answer the following question: What is the size in amino acid residues of the IGLL1 transcript named IGLL1-203? NOTE: Please give your answer as a number, not a word, and do not type the units.The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above to answer the following question: According to the web site above, how many phenotypes is IGLL1 associated with? ANSWER: IGLL1 is associated with Blank ... phenotypes.The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above and click 'show transcript table' to answer the following question: What is the NCBI accession number (including the version) of the RefSeq Match for the transcript IGLL1-202? ANSWER: The NCBI accession number (including the version) of the RefSeq Match for the transcript IGLL1-202 is "Blank 1".
- The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above and click, 'show transcript table', to answer the following question: What is the size in base pairs of the IGLL1 transcript named IGLL-202?Lesch-Nyhan syndrome is due to a mutation in a gene that encodesa protein called hypoxanthine-guanine phosphoribosyltransferase(HPRT). HPRT is an enzyme that functions in purine metabolism.People afflicted with this syndrome have severe neurodegenerationand loss of motor control. The pedigree below contains severalindividuals with Lesch-Nyhan syndrome, shown with blacksymbols. Based on this pedigree, does this syndrome appearto be inherited by an autosomal recessive, autosomal dominant,X-linked recessive, or X-linked dominant pattern? Explainyour reasoning.Hurler syndrome is due to a mutation in a gene that encodes aprotein called α-l-iduronidase. This protein functions withinlysosomes as an enzyme that breaks down mucopolysaccharides(a type of polysaccharide that has many acidic groups attached).When this enzyme is defective, excessive amounts of the mucopolysaccharides dermatan sulfate and heparin sulfate accumulatewithin the lysosomes, especially in liver cells and connectivetissue cells. This accumulation leads to symptoms such as anenlarged liver and spleen, bone abnormalities, corneal clouding,heart problems, and severe neurological problems. The pedigreebelow contains three members affected with Hurler syndrome,indicated with black symbols. Based on this pedigree, does thissyndrome appear to follow autosomal recessive, autosomaldominant, X-linked recessive, or X-linked dominant inheritance?Explain your reasoning.
- Sandhoff disease is due to a mutation in a gene that encodes a proteincalled hexosaminidase B. This disease has symptoms that aresimilar to those of Tay-Sachs disease. Weakness begins in the first 6 months of life. Individuals exhibit early blindness and progressive mental and motor deterioration. The family in the pedigree shown below has three members with Sandhoff disease, indicated with black symbols.Sickle-cell anemia is a recessive autosomal disorderthat is caused by an amino acid substitution in theβ-hemoglobin protein. The DNA mutation underlyingthis substitution is a SNP that alters a GAG codon forthe amino acid glutamate to a GTG that codes a valine.The frequency of sickle-cell anemia among AfricanAmericans is about 1/400. What is the frequency ofthis GTG codon in the β-hemoglobin gene amongAfrican Americans?Leber congenital amaurosis (LCA) is a form of congenital blindness in humans and is known to be caused by homozygosity for recessive mutations in the RPE65 gene. Recently, a rare dominant mutation in RPE65 has been implicated as one cause of an eye disease called retinitis pigmentosa, which is characterized by retinal degeneration that can progress to blindness. The dominant RPE65 mutation is a missense mutation causing amino acid 447 in the polypeptide to change from Asp to Glu. Little is known about the nature of the mutant protein. a. Do you think that the dominant allele is more likely a loss-of-function or a gain-of-function mutation? Explain. b. Recently a group of clinicians and scientists reported that gene therapy (gene replacement therapy) for LCA has been at least partially successful. Do you think that the same kind of gene therapy can be used for patients with retinitis pigmentosa caused by the dominant mutant allele of RPE65? Explain.