Moreno Diego Gene Cards Assignment 09-26-17 Gene: BAP1 1. What type of mutation it is (loss of function, gain of function—look up ANY terms up in your book if you don’t know what they mean! The BAP1 gene belongs to the ubiquitin hydrolase subfamily of deubiquitinating enzymes. It is a recessive mutant gene. 2. Does it act in a dominant or recessive manner? Bap1 acts as consistent recessive cancer susceptibility gene. 3. What is the affect of the mutation on the cell cycle? BAP1 is a recessive mutant gene with a mild growth defect. The growth defect spread in heterozygous mutants. BAP1 enhances the phenotypes and according to environmental factors it can modulate mutant combinations. 4. Can it be inherited? (predisposition). Yes,
My gene is located at chromosome 9 on the long (q) arm at position 34, 9q34.
5. List and differentiate between the two types of frameshift mutations. In frameshift mutation, bases are inserted or deleted and this messes up the reading frame (which is read in sets of 3--codons that encode certain amino acids)
mutation is phenylalanine 508 known as delta F508. Delta F508 is a deletion of 3 nucleotides
Choice “B” is not the best answer. An autosomal recessive disorder develops when two copies of an abnormal gene are passed onto the offspring. Examples of autosomal recessive disorders include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.
) Introduction. What is a dominant pathogenic mutation? Is the KID syndrome a dominant pathogenic disease? Explain.
CyclicAMP response element binding protein (CREBBP) is a gene located on chromosome 16 at the 16p13.3 locus [2][9]. CREBBP (also known as CBP) is a regulatory protein that is essential in embryonic development, cell differentiation, control of growth, and homeostasis. It is a multi-domain protein, co-activating [10] with several dozen different transcription factors (TFs). The most significant TF encoded by CREBBP is the CREB protein itself.
The researchers were able to show that MGC1203 is involved in BBS in several ways. They noticed that this protein was the only protein to be present in two separate data sets in which they were identifying proteins that interacted with BBS genes in yeast. 3 MGC1203 was also found in similar locations as the BBS genes in tissues that are often affected by the disorder. They saw that of a group of patients with BBS, 6.2 percent had the 430T variation as compared to only 1.4 percent in the control group, showing a strong correlation between BBS and the 430T variant of MGC1203. They then discovered that five patients had two mutations on a locus for BBS, and also found one parent that was homozygous for 430T that was unaffected. This showed that MGC1203 mutations do not cause the BBS disorder, but show that the 430T mutation influences BBS genes. Ultimately, the researchers concluded that slight mutations to this protein can contribute to the BBS disorder epistatically, by modifying BBS genes in patients that already have a genetic background for the disorder. The 430T allele will change the use of a splice junction, resulting in improper use of exons. This that leads to a loss in a message sent by MGC1203, modifying the penetrance and expressivity of BBS genes. These interactions have a strong contribution in the severity of phenotypes between various BBS
Deletion Mutation: is a type of gene mutation wherein the deletion of nucleotides causes a shift in the reading frame of the
The Hb molecule defect is specifically exhibited when a genetic point mutation occurs at the site of the Hb molecule– where a single nucleotide base has been substituted [ ]. Therefore, the mutated
After the first description of DBA by Josephs, the disease was further studied and analyzed by Louis Diamond and Kenneth Blackfan in 1938 (Anupama Narla, 2011). Since Diamond and Blackfan discovered a lot of information on the disease through research, the disease was named after both doctors. Most of the families affected by DBA appear to pass the genetic mutation in a dominant manner. Though several genes have been identified in the development of DBA, mutations in the RPS19 gene has been linked to more cases of DBA. The RPS19 gene helps to produce certain ribosomal factors that are used in ribonucleic acid processing. Ribosomes are responsible for producing proteins on a cellular level. This mutation leads to the inability of
Gene mutations are classified in two major ways: hereditary mutations and acquired (somatic) mutations. Hereditary mutations are inherited from a parent and
Effects of Mutations on the Human Body If the mutation affects the control processes of a cell, then it can lead to a cell dividing
This being said, there is not a specific gene for a specific trait. Traits are inherited although without the environmental influence they are not expressed in an individual’s phenotype.
The class Leu, Trp, Ade dropout plates (Table 2) showed that there are interactions between the Bub1B protein produced between 186 and 613 bp on the Bub1B1 gene and CDC20 protein, as shown in Figure 1. There are interactions between the Bub1B protein produced between 328 and 588 bp and BUB3 protein. There are interactions between the Bub1B protein produced between 588 and 1052 bp and Ppp2r5c protein. There are no interactions between the Bub1B and Zfp207