Radiographic analysis of zebrafish skeletal defects

Shannon Fisher, Pudur Jagadeeswaran, Marnie Halpern

Research output: Contribution to journalArticle

Abstract

Systematic identification of skeletal dysplasias in model vertebrates provides insight into the pathogenesis of human skeletal disorders and can aid in the identification of orthologous human genes. We are undertaking a mutagenesis screen for skeletal dysplasias in adult zebrafish, using radiography to detect abnormalities in skeletal anatomy and bone morphology. We have isolated chihuahua, a dominant mutation causing a general defect in bone growth. Heterozygous chihuahua fish have phenotypic similarities to human osteogenesis imperfecta, a skeletal dysplasia caused by mutations in the type I collagen genes. Mapping and molecular characterization of the chihuahua mutation indicates that the defect resides in the gene encoding the collagen I(α1) chain. Thus, chihuahua accurately models osteogenesis imperfecta at the biologic and molecular levels, and will prove an important resource for studies on the disease pathophysiology. Radiography is a practical screening tool to detect subtle skeletal abnormalities in the adult zebrafish. The identification of chihuahua demonstrates that mutant phenotypes analogous to human skeletal dysplasias will be discovered.

Original languageEnglish (US)
Pages (from-to)64-76
Number of pages13
JournalDevelopmental Biology
Volume264
Issue number1
DOIs
StatePublished - Dec 1 2003
Externally publishedYes

Fingerprint

Zebrafish
Osteogenesis Imperfecta
Radiography
Mutation
Genes
Forensic Anthropology
Bone Development
Collagen Type I
Mutagenesis
Vertebrates
Anatomy
Fishes
Collagen
Phenotype
Bone and Bones

Keywords

  • Collagen
  • Osteogenesis imperfecta
  • X-ray
  • Zebrafish

ASJC Scopus subject areas

  • Developmental Biology

Cite this

Radiographic analysis of zebrafish skeletal defects. / Fisher, Shannon; Jagadeeswaran, Pudur; Halpern, Marnie.

In: Developmental Biology, Vol. 264, No. 1, 01.12.2003, p. 64-76.

Research output: Contribution to journalArticle

Fisher, Shannon ; Jagadeeswaran, Pudur ; Halpern, Marnie. / Radiographic analysis of zebrafish skeletal defects. In: Developmental Biology. 2003 ; Vol. 264, No. 1. pp. 64-76.
@article{930bfa368d9b435c897854fe614e33ef,
title = "Radiographic analysis of zebrafish skeletal defects",
abstract = "Systematic identification of skeletal dysplasias in model vertebrates provides insight into the pathogenesis of human skeletal disorders and can aid in the identification of orthologous human genes. We are undertaking a mutagenesis screen for skeletal dysplasias in adult zebrafish, using radiography to detect abnormalities in skeletal anatomy and bone morphology. We have isolated chihuahua, a dominant mutation causing a general defect in bone growth. Heterozygous chihuahua fish have phenotypic similarities to human osteogenesis imperfecta, a skeletal dysplasia caused by mutations in the type I collagen genes. Mapping and molecular characterization of the chihuahua mutation indicates that the defect resides in the gene encoding the collagen I(α1) chain. Thus, chihuahua accurately models osteogenesis imperfecta at the biologic and molecular levels, and will prove an important resource for studies on the disease pathophysiology. Radiography is a practical screening tool to detect subtle skeletal abnormalities in the adult zebrafish. The identification of chihuahua demonstrates that mutant phenotypes analogous to human skeletal dysplasias will be discovered.",
keywords = "Collagen, Osteogenesis imperfecta, X-ray, Zebrafish",
author = "Shannon Fisher and Pudur Jagadeeswaran and Marnie Halpern",
year = "2003",
month = "12",
day = "1",
doi = "10.1016/S0012-1606(03)00399-3",
language = "English (US)",
volume = "264",
pages = "64--76",
journal = "Developmental Biology",
issn = "0012-1606",
publisher = "Academic Press Inc.",
number = "1",

}

TY - JOUR

T1 - Radiographic analysis of zebrafish skeletal defects

AU - Fisher, Shannon

AU - Jagadeeswaran, Pudur

AU - Halpern, Marnie

PY - 2003/12/1

Y1 - 2003/12/1

N2 - Systematic identification of skeletal dysplasias in model vertebrates provides insight into the pathogenesis of human skeletal disorders and can aid in the identification of orthologous human genes. We are undertaking a mutagenesis screen for skeletal dysplasias in adult zebrafish, using radiography to detect abnormalities in skeletal anatomy and bone morphology. We have isolated chihuahua, a dominant mutation causing a general defect in bone growth. Heterozygous chihuahua fish have phenotypic similarities to human osteogenesis imperfecta, a skeletal dysplasia caused by mutations in the type I collagen genes. Mapping and molecular characterization of the chihuahua mutation indicates that the defect resides in the gene encoding the collagen I(α1) chain. Thus, chihuahua accurately models osteogenesis imperfecta at the biologic and molecular levels, and will prove an important resource for studies on the disease pathophysiology. Radiography is a practical screening tool to detect subtle skeletal abnormalities in the adult zebrafish. The identification of chihuahua demonstrates that mutant phenotypes analogous to human skeletal dysplasias will be discovered.

AB - Systematic identification of skeletal dysplasias in model vertebrates provides insight into the pathogenesis of human skeletal disorders and can aid in the identification of orthologous human genes. We are undertaking a mutagenesis screen for skeletal dysplasias in adult zebrafish, using radiography to detect abnormalities in skeletal anatomy and bone morphology. We have isolated chihuahua, a dominant mutation causing a general defect in bone growth. Heterozygous chihuahua fish have phenotypic similarities to human osteogenesis imperfecta, a skeletal dysplasia caused by mutations in the type I collagen genes. Mapping and molecular characterization of the chihuahua mutation indicates that the defect resides in the gene encoding the collagen I(α1) chain. Thus, chihuahua accurately models osteogenesis imperfecta at the biologic and molecular levels, and will prove an important resource for studies on the disease pathophysiology. Radiography is a practical screening tool to detect subtle skeletal abnormalities in the adult zebrafish. The identification of chihuahua demonstrates that mutant phenotypes analogous to human skeletal dysplasias will be discovered.

KW - Collagen

KW - Osteogenesis imperfecta

KW - X-ray

KW - Zebrafish

UR - http://www.scopus.com/inward/record.url?scp=0242606044&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0242606044&partnerID=8YFLogxK

U2 - 10.1016/S0012-1606(03)00399-3

DO - 10.1016/S0012-1606(03)00399-3

M3 - Article

C2 - 14623232

AN - SCOPUS:0242606044

VL - 264

SP - 64

EP - 76

JO - Developmental Biology

JF - Developmental Biology

SN - 0012-1606

IS - 1

ER -