Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene - PubMed (original) (raw)
. 1994 Feb 1;8(3):277-89.
doi: 10.1101/gad.8.3.277.
Affiliations
- PMID: 8314082
- DOI: 10.1101/gad.8.3.277
Free article
Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene
A C Karaplis et al. Genes Dev. 1994.
Free article
Abstract
The parathyroid hormone-related peptide (PTHrP) gene was disrupted in murine embryonic stem cells by homologous recombination, and the null allele was introduced into the mouse germ line. Mice homozygous for the PTHrP null mutation died postnatally, probably from asphyxia, and exhibited widespread abnormalities of endochondral bone development. Histological examination revealed a diminution of chondrocyte proliferation, associated with premature maturation of chondrocytes and accelerated bone formation. Analysis of earlier developmental stages revealed that disturbance in cartilage growth preceded abnormal endochondral bone formation. There were no morphological abnormalities apparent in other tissues. These results provide direct evidence implicating PTHrP in normal skeletal development and serve to emphasize its potential involvement in human osteochondrodysplasias.
Similar articles
- Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation.
Weir EC, Philbrick WM, Amling M, Neff LA, Baron R, Broadus AE. Weir EC, et al. Proc Natl Acad Sci U S A. 1996 Sep 17;93(19):10240-5. doi: 10.1073/pnas.93.19.10240. Proc Natl Acad Sci U S A. 1996. PMID: 8816783 Free PMC article. - Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide.
Schipani E, Lanske B, Hunzelman J, Luz A, Kovacs CS, Lee K, Pirro A, Kronenberg HM, Jüppner H. Schipani E, et al. Proc Natl Acad Sci U S A. 1997 Dec 9;94(25):13689-94. doi: 10.1073/pnas.94.25.13689. Proc Natl Acad Sci U S A. 1997. PMID: 9391087 Free PMC article. - Parathyroid hormone-related peptide-depleted mice show abnormal epiphyseal cartilage development and altered endochondral bone formation.
Amizuka N, Warshawsky H, Henderson JE, Goltzman D, Karaplis AC. Amizuka N, et al. J Cell Biol. 1994 Sep;126(6):1611-23. doi: 10.1083/jcb.126.6.1611. J Cell Biol. 1994. PMID: 8089190 Free PMC article. - Recent studies on the biological action of parathyroid hormone (PTH)-related peptide (PTHrP) and PTH/PTHrP receptor in cartilage and bone.
Amizuka N, Henderson JE, White JH, Karaplis AC, Goltzman D, Sasaki T, Ozawa H. Amizuka N, et al. Histol Histopathol. 2000 Jul;15(3):957-70. doi: 10.14670/HH-15.957. Histol Histopathol. 2000. PMID: 10963138 Review. - PTHrP, PTH, and the PTH/PTHrP receptor in endochondral bone development.
Schipani E, Provot S. Schipani E, et al. Birth Defects Res C Embryo Today. 2003 Nov;69(4):352-62. doi: 10.1002/bdrc.10028. Birth Defects Res C Embryo Today. 2003. PMID: 14745975 Review.
Cited by
- Ocular findings in Jansen metaphyseal chondrodysplasia.
Obiezu F, Magone De Quadros Costa MT, Huryn LA, Pan K, Almpani K, Ninan A, Roszko KL, Weinstein LS, Gafni RI, Ferreira CR, Lee J, Collins MT, Jha S. Obiezu F, et al. JBMR Plus. 2024 Jul 12;8(9):ziae089. doi: 10.1093/jbmrpl/ziae089. eCollection 2024 Sep. JBMR Plus. 2024. PMID: 39108358 - A maternal brain hormone that builds bone.
Babey ME, Krause WC, Chen K, Herber CB, Torok Z, Nikkanen J, Rodriguez R, Zhang X, Castro-Navarro F, Wang Y, Wheeler EE, Villeda S, Leach JK, Lane NE, Scheller EL, Chan CKF, Ambrosi TH, Ingraham HA. Babey ME, et al. Nature. 2024 Aug;632(8024):357-365. doi: 10.1038/s41586-024-07634-3. Epub 2024 Jul 10. Nature. 2024. PMID: 38987585 Free PMC article. - The spatio-temporal expression analysis of parathyroid hormone like hormone gene provides a new insight for bone growth of the antler tip tissue in sika deer.
Xing H, Han R, Wang Q, Sun Z, Li H. Xing H, et al. Anim Biosci. 2024 Aug;37(8):1367-1376. doi: 10.5713/ab.23.0421. Epub 2024 Feb 28. Anim Biosci. 2024. PMID: 38419534 Free PMC article. - A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
Sun J, Yang N, Xu Z, Cheng H, Zhang X. Sun J, et al. Mol Genet Genomic Med. 2024 Feb;12(2):e2393. doi: 10.1002/mgg3.2393. Mol Genet Genomic Med. 2024. PMID: 38407575 Free PMC article. - A PTHrP Gradient Drives Mandibular Condylar Chondrogenesis via Runx2.
Tsutsumi-Arai C, Arai Y, Tran A, Salinas M, Nakai Y, Orikasa S, Ono W, Ono N. Tsutsumi-Arai C, et al. J Dent Res. 2024 Jan;103(1):91-100. doi: 10.1177/00220345231208175. Epub 2023 Dec 6. J Dent Res. 2024. PMID: 38058151 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases
Research Materials