Welcome to the Ellis van Creveld                       MuseumThe Gene            Hedgehog                                 ...
Nina, Ninosca, Morgan, and Surui thank you          Curator’s Office                 for visiting!We hoped you learned tha...
The GeneGames  Return    to   Entry
Hedgehog Pathway   Way of Life       Return         to        Entry
ProteinsClothing   Return     to    Entry
Games! Food  Return    to   Entry
EVC Around the World      Homes         Return           to          Entry
EVC and EVC2 Expression-Ellis van Creveld syndrome affects many different parts of the body including     tissues, organs,...
EVC the Introduction    -   There are actually two genes that are responsible for Ellis van Creveld        syndrome, but b...
Why is it Important?             -The genes involved in Ellis van Creveld syndrome do not account for all the             ...
How the Pathway Works                -When the Hedgehog ligand                attaches to the Patched                prote...
Hedgehog Pathway                                                                          -EVC and EVC2 are novel proteins...
Hedgehog Ligands         -There are three different ligands for the              Hedgehog pathway available in a human    ...
The Leucine Zipper                                                                           -EVC codes for a 992 amino ac...
You sure are smartSonic Hedgehog, Indian Hedgehog, and Desert   Hedgehog are all different hedgehog        Return to   pat...
Limbin   -EVC2 codes for a protein called Limbin   -This limbin molecule is shown to have a role in         regulation of ...
Which one is NOT a Hedgehog Pathway                      Ligand?ndian Hedgehog                                   Sonic Hed...
Name this structureLeucine Zipper                                       Hedgehog                                         L...
You mean to tell me you didn’t look       around enough?                               Return to                          ...
Which one of these is NOT an effect of             EVC and EVC2?Abnormal    Extra Fingers      Tall Stature Skeletal      ...
Variance of Ellis van Creveld-This disorder has a 25% pattern of          rs735171                                        ...
Distribution Map                                 Around the World Data The following is a link to an   in general, populat...
Founder Effect and Ellis van Creveld-Found effect shows that a certain few leave the population to go colonize     in the ...
You sure are smart                                                 Return toThat is the leucine zipper which is one of the...
You sure are smartExtra fingers and abnormal skeletal  structure are definitely products of this   Return to  disorder how...
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EVC & EVC2 (Ellis-van Creveld)

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EVC & EVC2 (Ellis-van Creveld)

  1. 1. Welcome to the Ellis van Creveld MuseumThe Gene Hedgehog Proteins Pathway Games! Museum Entrance Exit Around the World
  2. 2. Nina, Ninosca, Morgan, and Surui thank you Curator’s Office for visiting!We hoped you learned that Ellis van Creveld is a very interesting genetic disorder showing you how the founder effect works in a human population as well as showing the development of the affected individuals. People with this disorder show abnormalities in all regions of the body which means that this gene plays a vital role in the major development of our bodies. Since the exact location of the EVC and EVC2 protein are not well known it is important for research to continue. The implications of this gene could help us get a better understanding of how humans develop in the embryo as well as how any abnormal growth occurs. Return to Entrance
  3. 3. The GeneGames Return to Entry
  4. 4. Hedgehog Pathway Way of Life Return to Entry
  5. 5. ProteinsClothing Return to Entry
  6. 6. Games! Food Return to Entry
  7. 7. EVC Around the World Homes Return to Entry
  8. 8. EVC and EVC2 Expression-Ellis van Creveld syndrome affects many different parts of the body including tissues, organs, and skeletal structure--The three main features after birth include -extra fingers in hands or feet (polydactyly) Return to -short stature and shorter arms, legs, or ribcage Exhibit -Dysplasia in teeth, hair, or nails-The table above shows the expression of these genes in different organs of the body
  9. 9. EVC the Introduction - There are actually two genes that are responsible for Ellis van Creveld syndrome, but both do not count for all the reported cases - The genes, EVC and EVC2 are both located on the 4th chromosome in the 16.1 and 16.2 position (as indicated by the yellow arrow) Return to ExhibitOverview Paper: http://www.biomedcentral.com/content/pdf/1750-1172-2-27.pdf&embedded=true
  10. 10. Why is it Important? -The genes involved in Ellis van Creveld syndrome do not account for all the differences in this genetic disorder meaning that there can be more at work to create the disorder -Since these genes tend to affect many of the major organs in the body it isReturn to Exhibit important to understand the pathway of this disorder -Ongoing research also shows that a disrupted hedgehog pathway (a mutation caused by these genes) can also cause cancer, further study of this gene can lead to a better understanding and treatment options for cancer
  11. 11. How the Pathway Works -When the Hedgehog ligand attaches to the Patched protein a cascade of signals are sent in the cell that ultimately lead to the activation of Ci, a factor that helps for the hedgehog target to be transcribed for replication -A more molecular view is available here: -http://www.dnatube.com/video/58 Return to Exhibit
  12. 12. Hedgehog Pathway -EVC and EVC2 are novel proteins important in the creation of purmorphamine (an agonist of Smoothened, the regulator of the Ihh pathway). -This pathway is important in cell differentiation and organ development in embryos -Both EVC and EVC2 are cilia transmembrane proteins -The underproduction caused by a disruption in the pathway can lead to malformed organs or skeletal structures while the stimulation of the pathway can lead to tumor growth -This also plays a role in the regulation of stem cells in the adult human bodyReturn to ExhibitPaper :http://www.biomedcentral.com/1741-7007/9/14/ More on Embryonic Development: http://www.biooncology.com/research-education/hedgehog/overview/embryonic/index.html
  13. 13. Hedgehog Ligands -There are three different ligands for the Hedgehog pathway available in a human and each have their own specific reaction when they reach the end of the signaling pathway -Sonic Hedgehog (Shh): shown to alter limb and heart formation -Indian Hedgehog (Ihh): shown to alter bone development -Desert Hedgehog (Dhh): shown to alter ganglia and intestines -EVC and EVC2 do not code for the ligands This picture shows the hedgehog gene in drosophila development (the top is only for a regulatory component in the the normal type) pathway that allows each of these ligands to be processed for their ultimate function Return to ExhibitDetailed Paper on Pathway: http://www.abcam.com/index.html?pageconfig=resource&rid=10858&pid=10039
  14. 14. The Leucine Zipper -EVC codes for a 992 amino acid protein which contains a leucine zipper. Mutation leads to the creation of proline amino acid that leucine, which is important -A leucine zipper is a transcription factor that regulates DNA transcription -EVC plays a role in the hedgehog pathway regulation one of which is hypothesized to be this DNA leucine zipper formation -With an improper attachment to the DNA, the targeted cell’s DNA is not duplicated for the end products ofReturn to the targeted cell development Exhibit Leucine Zipper and DNA implications: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC450290/pdf/emboj00004-0235.pdf
  15. 15. You sure are smartSonic Hedgehog, Indian Hedgehog, and Desert Hedgehog are all different hedgehog Return to pathway ligands found in humans. Aren’t Games hedgehogs already prickly? We don’t need anymore prickly things.
  16. 16. Limbin -EVC2 codes for a protein called Limbin -This limbin molecule is shown to have a role in regulation of the hedgehog pathway although it is not entirely understood -It is believed that this protein acts as a signal carrier because it is found in both the nucleus of the cell and the basal portion of the cilia -EVC2 can also affect signaling because it facilitates the attachment of EVC to the cilia -Any disruption a the signal pathway can lead to defects that depend on the ligandsReturn to Exhibit Paper on Cilia and Regulation: http://www.biomedcentral.com/1741-7007/9/14
  17. 17. Which one is NOT a Hedgehog Pathway Ligand?ndian Hedgehog Sonic Hedgehog Prickly Hedgehog Desert Hedgehog Return to Exhibit
  18. 18. Name this structureLeucine Zipper Hedgehog Ligand Hedgehog Pathway Return to Exhibit
  19. 19. You mean to tell me you didn’t look around enough? Return to Exhibit
  20. 20. Which one of these is NOT an effect of EVC and EVC2?Abnormal Extra Fingers Tall Stature Skeletal Return to Growth Exhibit
  21. 21. Variance of Ellis van Creveld-This disorder has a 25% pattern of rs735171 AAGAGGGCTCAGGTGT/CCCTCTCCT inheritance GCTCTCT-There are more than 2000 different rs748233 mutations for both portions of the EVC CCCCACTCCCAGCCAC/TGCCCAGCT gene each containing two different CAGGCCT alleles rs752061-This is a very novel disorder that seems TTGAGCCTTGCCCCAC/TCCCCACCC to show about 150 cases a year, but CAGGGTC many new cases have been reported Some of the DNA sequencing even outside of the normal Amish mutations of this disorder communities where it is prevalent show that the bases highlighted are switched Return to Exhibit
  22. 22. Distribution Map Around the World Data The following is a link to an in general, population: interactive map for the --.07/100,000 live distribution of Ellis van births -5.2/100,000 live Creveld births in the Unitedhttp://www.zeemaps.com/p Arab Emirates ub?group=439061 -500/100,000 live births in the Amish of Pennsylvania Return to -.5-2/100,000 live Exhibit births in Sweden parental consanguity in 30% of cases
  23. 23. Founder Effect and Ellis van Creveld-Found effect shows that a certain few leave the population to go colonize in the other-With each new population the risk of recessive gene mutations increases-Ellis van Creveld is an autosomal recessive gene and is prevalent in the Amish communities Return to-The Amish migrated in small colonies and show the same signs of the Exhibit founder effect-PBS knows the Amish: http://www.pbs.org/wgbh/evolution/library/06/3/l_063_03.html
  24. 24. You sure are smart Return toThat is the leucine zipper which is one of the Games products from the protein EVC codes for.
  25. 25. You sure are smartExtra fingers and abnormal skeletal structure are definitely products of this Return to disorder however being tall is Games definitely not one of them. People with this disorder are categorized as having a small stature

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