Which mice showed greatest improvement in memory. Concept introduction: Autism is a neurological disorder in which patients have impaired social interactions and repetitive, stereotyped behaviors. The condition appears due to mutation in the gene neuroligin 3, and an adhesion protein that connects the brain cells together. The mutation causes substitution of a cysteine (C) amino acid by arginine (R) in position 451.

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can you please help me out with this ? Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids). Nonsense mutation in a coding region Insertion in Exon 1, causing frameshift Insertion in Exon 7, causing frameshift Missense mutation Deletion in Exon 2, causing frameshift Deletion in Exon 2, in frame (g) Large deletion covering Exons 2 and 3

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Chapter 15, Problem 4DAA

Summary Introduction

To determine: Which mice showed greatest improvement in memory.

Concept introduction: Autism is a neurological disorder in which patients have impaired social interactions and repetitive, stereotyped behaviors. The condition appears due to mutation in the gene neuroligin 3, and an adhesion protein that connects the brain cells together. The mutation causes substitution of a cysteine (C) amino acid by arginine (R) in position 451.

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can you please help me out with this ? Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids). Nonsense mutation in a coding region Insertion in Exon 1, causing frameshift Insertion in Exon 7, causing frameshift Missense mutation Deletion in Exon 2, causing frameshift Deletion in Exon 2, in frame (g) Large deletion covering Exons 2 and 3

Match each example of mutation to the correct effect on function. Hypomorphic mutation Hypermorphic mutation Antimorphic mutation Neomorphic A deletion results in the loss of part of a protein and the protein retains some of its normal activity. A mutant allele makes a protein with increased cataytic activity. A mutant form of a transcription factor binds new DNA sequences to activate different genes. A mutant from of a receptor protein interferes with the function of the wild-type receptor through heterodimerization.

Bloom Syndrome Bloom syndrome is a rare genetic disorder. It is characterized by a short stature and a long narrow face with prominent nose and ears. There is also an increased sensitivity to light. People who have the disorder often develop rashes on their face, forearms, and hands when they have been exposed to the sun. In addition, these people often suffer from chronic obstructive pulmonary disorder (COPD) and have a higher chance of developing cancer. The cause of this genetic disorder is a mutation in the BLM gene located on chromosome 15. The immediate effect of this mutation is that there is a defect in the functioning of the DNA helicase enzyme. The location of this gene on the chromosome is indicated above (yellow arrow). What is the effect of this mutation on DNA replication? What stage of the cell cycle would be most affected?