genome project
Web Addresses for this project
UCSC Genome Browser:
http://genome.ucsc.edu/cgi-bin/hgGateway
NCBI Website: http://www.ncbi.nlm.nih.gov/genome/guide/human/
MYOGLOBIN
One of the most important proteins in the human body is MYOGLOBIN.
Type in the word "myoglobin" to the UCSC browser, and then answer the following questions:
· What is the symbol for the myoglobin gene?
· What chromosome is this gene located on?
· What portion of the chromosome does it occupy?
· How many base pairs long is this gene?
· What is the function of myoglobin?
· Where in the body is myoglobin found?
· Which gene appears just to the right of the myoglobin gene?
· What is the function of this gene according to OMIM?
Chromosome 3
Open the UCSC genome browser and go to chromosome 3. Look at the region between bases 119970000 and 120080000.
(NOTE: to do this, type in chr3:119970000-120080000)
· What Gene is located in this region?
· How many base pairs long is this gene?
· For which protein does it code?
· What genetic disorder is it associated with?
· Is the disorder recessive or dominant?
· Who discovered this genetic disorder? and when?
· What are the manifestations (symptoms) of this disease?
Chromosome 19
Go to chromosome number 19, and examine the DNA sequence from base 42750400 to 42772800.
(NOTE: to do this, type in chr19:42750400-42772800)
· There is a single gene in this region. What is its symbol?
· How long is it (in bases)?
· For what product does this gene code?
· Where in the cell does this protein product normally act?
· Are there any disorders or genetic diseases associated with alleles in this gene?
Chromosome 21
Chromosome 21 is the smallest human chromosome. Go to the NCBI (National Center for Biotechnology Information) site and click on the picture of chromosome 21.
NCBI Website: http://www.ncbi.nlm.nih.gov/genome/guide/human/
· How many genes are known to be on Chromosome 21?
· Approximately how many base pairs of DNA are in Chromosome 21?
·
One gene that
should be visible on the page is called SOD1. If you don't
see SOD1 listed, type SOD1 in the Search box at the top of the page, and
click on "find in this view." SOD1 should now show up on the page.
· Click on "SOD1," and describe a genetic disorder (phenotype) associated with this gene.
· Can you name a famous person who died from this disorder (HINT: Scroll down to the very bottom of the page and click on the link "Genes and Diseases")?
· What is the function of the enzyme coded for by SOD1?
· How does chromosome 21 compare to chromosome 1 as far as number of genes and number of base pairs?
Cystic Fibrosis
Go to the UCSC Browser and find the gene for "cystic fibrosis" (Just type that name into the Browser).
· On which chromosome is the gene located?
· What is its exact location in terms of base pairs?
· How many base pairs long is it?
· For which protein does it code?
· What is the function of this protein?
· Is cystic fibrosis recessive or dominant?
· Which gene is to left of it?
· Which is to the right?
BRCA1 and BRCA2
Many physicians have begun routinely screening their patients for the recessive alleles of genes known as BRCA1 or BRCA2. Search for these genes in the UCSC Browser.
· What chromosome is BRCA1 located on?
· What is its exact location?
· How many base pairs long is it?
· What is the function of this protein?
· What chromosome is BRCA2 located on?
· What is its exact location?
· How many base pairs long is it?
· What disease are both genes associated with?
X Chromosome
Open the UCSC genome browser and go to chromosome X. Look at the region between bases 29,822,404-31,914,733.
(NOTE: to do this, type in chrX:29,822,404-31,914,733)
· What is the symbol for this gene?
· How many base pairs long is it?
· What record does this gene hold due to its size?
· What genetic disorder is associated with this gene?
· Is there anything unusual about how this disorder is inherited? (for example, is it more common in women or in men?) Why is this the case?
· What gene is just to the right of it in the browser?
PRY
A careful search of DNA samples taken from 24 members of your school's student body establishes that 13 of them do not have a DNA sequence that corresponds to a gene called PRY.
Find PRY in the human genome map using the UCSC browser.
· What chromosome is it located on?
· What is its exact location?
· How many base pairs long is it?
· Offer an explanation for the fact that 13 out of 24 class members tested do not have the PRY gene.
BCR and ABL1
BCR and ABL1 are genes located on separate chromosomes. These 2 genes are related to each other in a rather bizarre way.
Search for each of these genes in the UCSC Browser.
· Where exactly is BCR located?
· How many base pairs long is it?
· What does BCR stand for?
· Is the function of the normal BCR protein known?
· What disease is this chromosome associated with?
· What type of mutation causes this disease?
· What is the exact location of ABL1? How many base pairs long is it?
· What 4 processes has this gene been implicated in? Which of these processes is probably related to the disease it can cause?
Search for the INS gene in the UCSC Browser
Open the UCSC genome browser and go to chromosome 4. Look at the region between bases 2,980,457-3,149,875.
(NOTE: to do this, type in chr4:2,980,457-3,149,875)
Search the UCSC Browser for the EVC gene.
Search for MRPL 1 in the UCSC Browser.
Keratin is one of the most important proteins in the human body. Hair, fingernails, and skin are all made up of keratin. Search for "keratin" in the UCSC Browser.
PEPSIN
One of the most important human digestive enzymes is called "pepsin." Search for the pepsin gene using the UCSC Genome Browser.
· How many genes are associated with pepsin?
· Give the exact sizes and exact chromosomal locations of these genes.
· What are the symbols for these genes?
TAY SACHS