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Deafness: A general term for the complete loss of the ability to hear from both ears.

Genetics of Organisms- Concept

JoVE 10557

Mendelian Genetics

Evolution is caused by changes in the genetic composition of populations. In the field of population genetics, scientists model this process as changes in the frequency of alleles at individual genetic loci. This simple representation of how evolution occurs dates to Gregor Mendel’s analysis of trait inheritance patterns in pea plants, first presented in 1865.…

 Lab Bio

Pleiotropy

JoVE 10780

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes, which are involved in pigmentation and also in the early development of the ear. SOX10 is also expressed in nerve tissue that eventually contributes to the enteric nervous system in the gut, which controls the contractions necessary for waste elimination. In this way, SOX10 exhibits pleiotropic effects, because it influences multiple phenotypes. Pleiotropy can arise through several mechanisms. Gene pleiotropy occurs when a gene has various functions due to encoding a product that interacts with multiple proteins or catalyzes multiple reactions. For example, in humans, an abnormal copy of the SOX10 gene, in which a region is deleted, can lead to developmental defects that include a white forelock, different-colored irises (e.g., one blue and one brown), and regions of unpigmented skin. These traits are all symptoms of a di

 Core: Biology

A Comparative Study of Drug Delivery Methods Targeted to the Mouse Inner Ear: Bullostomy Versus Transtympanic Injection

1Instituto de Investigaciones Biomédicas (IIBm) Alberto Sols CSIC-UAM, 2Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 3Instituto de Investigación Sanitaria La Paz (IdiPAZ), 4Facultad de Veterinaria, Universidad Complutense de Madrid, 5Departmento de Otorrino laringología, Hospital Universitario La Paz

JoVE 54951

 Biology

Data Acquisition and Analysis In Brainstem Evoked Response Audiometry In Mice

1Experimental Neuropsychopharmacology, Federal Institute for Drugs and Medical Devices, 2KBRwyle GmbH, 3Cognitive Neurophysiology, Department of Psychiatry and Psychotherapy, Faculty of Medicine, University of Cologne, 4Molecular and Cellular Cognition, German Center for Neurodegenerative Diseases (DZNE), 5Institute of Neurophysiology, Faculty of Medicine, University of Cologne, 6Federal Institute for Drugs and Medical Devices (BfArM), 7Thescon GmbH

JoVE 59200

 Neuroscience

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

1Program in Developmental Biology, Baylor College of Medicine, 2Medical Scientist Training Program, Baylor College of Medicine, 3Department of Pediatrics, Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, 5Department of Molecular and Human Genetics, Baylor College of Medicine, 6Department of Neuroscience, Baylor College of Medicine, 7Howard Hughes Medical Institute, Baylor College of Medicine

JoVE 59542

 Genetics
123457
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