Trabajo plegable biomol
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  • 1. “REWIRING STEM CELLS: NEW TECHNIQUE MAY REVOLUTIONIZE UNDERSTANDING OF HOW GENES FUNCTION” AND “IMPORTANT DISCOVERY FOR DIAGNOSIS OF GENETIC DISEASES”. María Angélica Díaz Uribe Medicine student III Semester Molecular Biology
  • 2. INTRODUCTION news report on genetic studies about effective method to identify the working of genes in cell differentiation and possible causes of genetic syndromes attributed to the three-dimensional organization of chromatin.
  • 3. “REWIRING STEM CELLS: NEW TECHNIQUE MAY REVOLUTIONIZE UNDERSTANDING OF HOW GENES FUNCTION”
  • 4. “REWIRING STEM CELLS: NEW TECHNIQUE MAY REVOLUTIONIZE UNDERSTANDING OF HOW GENES FUNCTION”  Cell  type in  an  organism expresses a subset of  all  the genes that  constitute  the genome of that species.  Each  cell  type  is  defined  by  its  particular pattern of regulated gene  expression.  Cell  differentiation  is  thus  a  transition  of  a  cell  from  one  cell  type  to  another  and  it  involves  a  switch  from  one  pattern  of  gene  expression to another.  Cellular differentiation during  development can be        understood   as the result  of a gene regulatory network.
  • 5. “REWIRING STEM CELLS: NEW TECHNIQUE MAY REVOLUTIONIZE   UNDERSTANDING OF HOW GENES FUNCTION” The  searches  used  unfertilised  mouse  eggs to generate embryonic stem cells with  a  single  set  of  chromosomes,  known  as  haploid stem cells.  Haploid  cells  show  all  of  the  same  characteristics  as  stem  cells  with  two  sets  of  chromosomes,  and  retain  the  same  full  developmental  potential.  This  cells  facilitates that the process is a bit faster.
  • 6. “REWIRING STEM CELLS: NEW TECHNIQUE MAY REVOLUTIONIZE UNDERSTANDING OF HOW GENES FUNCTION” A  transposable  element (TE, transposon or retrotransposo n)  is  a DNA  sequence that  can  change  its  position  within  the  genome,  sometimes  creating or reversing mutations and altering  the cell's genome size. Transposition often  results in duplication of the TE The  researchers  used  transposons  --  "jumping  genes"-  to  make  mutations  in  nearly  all  genes.  The  effect  of  a  mutation  can  be  seen  immediately  in  haploid  cells  because there is no second gene copy.
  • 7. “REWIRING STEM CELLS: NEW TECHNIQUE MAY REVOLUTIONIZE   UNDERSTANDING OF HOW GENES FUNCTION” They used haploid ESCs to  develop a forward genetics  screen for pluripotency  regulators. METHODS A cohort of candidate genes  that promote collapse of  self-renewal was validated. The conserved zinc finger  protein Zfp706 promotes  differentiation. Pum1 mediates  posttranscriptional  destabilization of the  pluripotency network.  Identify key players  regulating exit from  self-renewal in ESCs  using a forward  genetic screen in  haploid ESCs.
  • 8. “REWIRING STEM CELLS: NEW TECHNIQUE MAY REVOLUTIONIZE UNDERSTANDING OF HOW GENES FUNCTION” PERSONAL OBSERVATION Circuits  self-renewal  of  embryonic  stem  cells  (ESCs) haploid is a  useful  and  fast  tool  for  determining  the  operational  work  of  the  gene,  this  discovery  opens  the  door  for  intervention  in  the  development process and makes possible the understanding of a  large number heart disease, liver problems and cancer.  
  • 9. “IMPORTANT DISCOVERY FOR DIAGNOSIS OF GENETIC DISEASES”.
  • 10. “IMPORTANT DISCOVERY FOR DIAGNOSIS OF GENETIC DISEASES”. activity of genes controlling embryonic development The threedimensional organization of the chromatin. The substance distributed in the nucleus of a cell that condenses to form chromosomes during cell division. The basic repeating structural (and functional) unit of chromatin is the nucleosome, which contains nine histone proteins and about 166 base pairs of DNA
  • 11. “IMPORTANT DISCOVERY FOR DIAGNOSIS OF GENETIC DISEASES”. Hox genes encode transcription factors with crucial roles during development. These genes are grouped in four different clusters names HoxA, B, C, and D. Mutations in genes of the HoxAand D clusters have been found in several human syndromes, affecting in some cases limb development.
  • 12. “IMPORTANT DISCOVERY FOR DIAGNOSIS OF GENETIC DISEASES”. Enhancer In genetics, an enhancer is a short region of DNA that can be bound with proteins (namely, the trans-acting factors, much like a set of transcription factors) to enhance transcription levels of genes (hence the name) in a gene cluster. While enhancers are usually cisacting, an enhancer does not need to be particularly close to the genes it acts on, and sometimes need not be located on the same chromosome
  • 13. “IMPORTANT DISCOVERY FOR DIAGNOSIS OF GENETIC DISEASES”. Model illustrating how genome topology underlies the tissue-specific regulation of HoxA genes. The HoxA cluster is partitioned between two TADs (light blue), physically segregating3′HoxA from 5′HoxA genes in a mostly cell-type independent manner. In contrast, the sub-TAD interaction pattern is drastically different in the limb (A) compared to the head (B).
  • 14. “IMPORTANT DISCOVERY FOR DIAGNOSIS OF GENETIC DISEASES”. PERSONAL OBSERVATION The study reveals that extensive threedimensional chromatin interactions control the expression of HoxA genes in developing limbs by forming distinct topological domains containing limb enhancers, which interact with each other and with the topological domains containing their target genes.  
  • 15. MEDICAL UTILITY
  • 16. MEDICAL UTILITY Achieve a better understanding of cell differentiation process is essential for the future of genetic research and therefore, for medical progress in search of fighting diseases current. studies on the structure and organization of chromatin are the beginning to identify the source of many genetic diseases and manipulate the genes involved to prevent.
  • 17. BIBLIOGRAPHY Rewiring stem cells: New technique may revolutionize understanding of how genes function, Science Daily; 2014 [cited 2014 january 9]. Available at: http://www.sciencedaily.com/releases/2014/01/140109132309.htm Important discovery for diagnosis of genetic diseases. Science Daily; 2014 [january 16]. Available at: http://www.sciencedaily.com/releases/2014/01/140116113512.htm Leeb M, Dietmann S, Paramor M, Niwa H, Smith A.(2014). Genetic Exploration of the Exit from Self-Renewal Using Haploid Embryonic Stem Cells. Cell Stem Cell [online]. Availabe at: http://www.sciencedirect.com/science/article/pii/S1934590913005572 Soizik Berlivet, Denis Paquette, Annie Dumouchel,David Langlais, Josée Dostie, & Marie Kmita. (2014).Clustering of Tissue-Specific Sub-TADs Accompanies the Regulation of HoxAGenes in Developing Limbs. PloS Genetics [online] Available at:http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1004018  
  • 18. THANKS