Gene Cards Assignment

The closest neighboring gene to mine is named growth factor independent 1B transcription repressor (GFI1B), and it codes for Zinc finger protein Gfi-1b.

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)

When a tumor suppressor gene is effected by a mutation, it loses its control over the cell and the cell does not stop to get inspected. When this happens, the mutation is copied, the cell divides and damage is passed down to the newly formed daughter cells. The mutation then becomes permanent and the now mutated cell will continue to divide and proliferate when it normally would not.

mutation is phenylalanine 508 known as delta F508. Delta F508 is a deletion of 3 nucleotides

FUBP1, also known as Far Upstream Element Binding Protein 1, is a tumor suppressor gene located on the reverse strand of chromosome 1. The exact location of this gene is chr1:78,413,591-78,444,777. FUBP1 is a protein-encoded gene. This protein functions as an ATP-dependent DNA helicase. It regulates MYC expression by binding to a single-stranded far-upstream element upstream of the MYC promoter. It binds to multiple DNA elements. It may act as both an activator and repressor of transcription. [1] FUBP1 is a transcriptional regulator and fulfills an important function in the precise control of c-MYC transcription. The c-MYC protein is a transcription factor, which regulates the transcription of many different target genes that play in proliferation,

In this experiment you will be examining the effect of a dominant mutation that changes how the organism obtains food.

) Introduction. What is a dominant pathogenic mutation? Is the KID syndrome a dominant pathogenic disease? Explain.

The NF1 gene has been sited to the long arm of chromosome 17; more than 250 mutations leading to protein truncation having been detected in affected individuals.

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

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.

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

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

Deletion Mutation: is a type of gene mutation wherein the deletion of nucleotides causes a shift in the reading frame of the

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.