Yayınlanmış 1 Ocak 2012
| Sürüm v1
Dergi makalesi
Açık
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1
Oluşturanlar
- 1. ASTAR, Inst Med Biol, Singapore, Singapore
- 2. Med Res Council Natl Inst Med Res, Div Syst Biol, London, England
- 3. Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA
- 4. Univ Jordan, Fac Med, Dept Ophthalmol, Amman, Jordan
- 5. Marmara Univ Hosp, Istanbul, Turkey
- 6. Istanbul Univ, Dept Med Genet, Istanbul Fac Med, Istanbul, Turkey
Açıklama
Using homozygosity mapping and locus resequencing, we found that alterations in the homeodomain of the IRX5 transcription factor cause a recessive congenital disorder affecting face, brain, blood, heart, bone and gonad development. We found through in vivo modeling in Xenopus laevis embryos that Irx5 modulates the migration of progenitor cell populations in branchial arches and gonads by repressing Sdf1. We further found that transcriptional control by Irx5 is modulated by direct protein-protein interaction with two GATA zinc-finger proteins, GATA3 and TRPS1; disruptions of these proteins also cause craniofacial dysmorphisms. Our findings suggest that IRX proteins integrate combinatorial transcriptional inputs to regulate key signaling molecules involved in the ontogeny of multiple organs during embryogenesis and homeostasis.
Dosyalar
bib-51af39a3-0d00-45ea-8e7e-cea76b23410c.txt
Dosyalar
(271 Bytes)
| Ad | Boyut | Hepisini indir |
|---|---|---|
|
md5:aa8c371d37c5e7bc3c95d0151ad490aa
|
271 Bytes | Ön İzleme İndir |