Genetics of Human Laterality Disorders: Insights from Vertebrate Model Systems
| Autor: | Susan H. Morelli, H. Joseph Yost, Brent W. Bisgrove |
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| Rok vydání: | 2003 |
| Předmět: |
Male
Candidate gene Body Patterning ved/biology.organism_classification_rank.species Gene Expression Biology Mice biology.animal Genetics medicine Animals Humans Model organism Molecular Biology Zebrafish Genetics (clinical) ved/biology Genetic Diseases Inborn Vertebrate medicine.disease biology.organism_classification Phenotype Pedigree Situs inversus Laterality Female |
| Zdroj: | Annual Review of Genomics and Human Genetics. 4:1-32 |
| ISSN: | 1545-293X 1527-8204 |
| DOI: | 10.1146/annurev.genom.4.070802.110428 |
| Popis: | Many internal organs in the vertebrate body are asymmetrically oriented along the left-right (L-R) body axis. Organ asymmetry and some components of the molecular signaling pathways that direct L-R development are highly conserved among vertebrate species. Although individuals with full reversal of organ L-R asymmetry (situs inversus totalis) are healthy, significant morbidity and mortality is associated with perturbations in laterality that result in discordant orientation of organ systems and complex congenital heart defects. In humans and other vertebrates, genetic alterations of L-R signaling pathways can result in a wide spectrum of laterality defects. In this review we categorize laterality defects in humans, mice, and zebrafish into specific classes based on altered patterns of asymmetric gene expression, organ situs defects, and midline phenotypes. We suggest that this classification system provides a conceptual framework to help consolidate the disparate laterality phenotypes reported in humans and vertebrate model organisms, thereby refining our understanding of the genetics of L-R development. This approach helps suggest candidate genes and genetic pathways that might be perturbed in human laterality disorders and improves diagnostic criteria. |
| Databáze: | OpenAIRE |
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