Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6...
Transcript of Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6...
![Page 2: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/2.jpg)
http://tolweb.org/tree/
![Page 3: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/3.jpg)
http://www.hps.cam.ac.uk/people/hopwood/haeckel.pdf
![Page 4: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/4.jpg)
![Page 5: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/5.jpg)
5
![Page 6: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/6.jpg)
6
![Page 7: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/7.jpg)
7
![Page 8: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/8.jpg)
![Page 9: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/9.jpg)
9
![Page 10: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/10.jpg)
![Page 11: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/11.jpg)
![Page 12: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/12.jpg)
![Page 13: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/13.jpg)
![Page 14: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/14.jpg)
14
Collagen type II reporter
![Page 15: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/15.jpg)
![Page 16: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/16.jpg)
Weismann et al. Genetics 2015
![Page 17: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/17.jpg)
![Page 18: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/18.jpg)
http://www.scientificamerican.com/slideshow/neurology-neural-cells-brain-in-psychedelic-relief/#9
Livet et al., Nature 2007
![Page 19: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/19.jpg)
Histology
http://www.eurogrow.net/eug/Project+Information/Objectives
![Page 20: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/20.jpg)
Li et al., eLife 2017
![Page 21: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/21.jpg)
![Page 22: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/22.jpg)
Li et al., FASEB J 2017
![Page 23: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/23.jpg)
![Page 24: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/24.jpg)
http://pixgood.com/lateral-plate-mesoderm.html
![Page 25: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/25.jpg)
wt heterozygote
Human heterozygote
Human mutations in RUNX2 lead to cleidocranial dysplasia (CCD)
Otto et al. Cell, 1997 Mundlos et al. Cell, 1997
![Page 26: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/26.jpg)
![Page 27: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/27.jpg)
27Ingo Arndt
![Page 28: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/28.jpg)
Spielman et al. HMG 2016
![Page 29: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/29.jpg)
![Page 30: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/30.jpg)
30
![Page 31: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/31.jpg)
Lupianez et al, Cell 2015
![Page 32: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/32.jpg)
Petit et al., NatRevGen 2017
![Page 33: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/33.jpg)
![Page 34: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/34.jpg)
Spielman et al. AJHG 2012
Liebenberg Syndrome
![Page 35: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/35.jpg)
![Page 36: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/36.jpg)
![Page 37: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/37.jpg)
Ospelt et al, NatRevRheuma. 2017
![Page 38: Bone development and skeletal growth · Wild type SHH expression in ZPA ZRS LMBRI Intron 5 DLX6 DLX5 SHH Mutant Ectopic SHH expression ZRS LMBRI Gain-of-function mutation DLX6 DLX5](https://reader036.fdocuments.in/reader036/viewer/2022062603/5f0a55dc7e708231d42b25bd/html5/thumbnails/38.jpg)
Thank you