Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Developmental disorders of man. Part 2].

J M Opitz1

  • 1Shodair, Childrens Hospital, Helena.

Monatsschrift Kinderheilkunde : Organ Der Deutschen Gesellschaft Fur Kinderheilkunde
|May 1, 1992
PubMed
Summary

Genetics explains development, with recent advances highlighting gene functions. A paired box- and homeobox-containing gene mutation on 11p13 causes human aniridia, mirroring mouse mutations.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

American journal of medical genetics. Part A·2017
Same author

Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome. 1988.

American journal of medical genetics. Part A·2013
Same author

The cardiofaciocutaneous syndrome.

Journal of medical genetics·2006
Same author

"Double-muscle" trait in cattle: a possible model for Wiedemann-Beckwith syndrome.

Fetal and pediatric pathology·2006
Same author

Transitory hypogammaglobulinemia of infancy in FG syndrome.

American journal of medical genetics. Part A·2005
Same author

Genetics of tethered cord "syndrome": The FG syndrome.

American journal of medical genetics. Part A·2004

Area of Science:

  • Developmental biology
  • Genetics
  • Molecular biology

Context:

  • Genetics emerged from developmental history, focusing on causal understanding of development.
  • Spemann's discovery of the organizer marked a key step in experimental developmental biology.
  • Recent revolutions in developmental biology have renewed interest in homologous animal models for human conditions.

Purpose:

  • To explore the genetic underpinnings of development.
  • To connect gene function to clinically identifiable developmental attributes.
  • To investigate the role of specific genes in human congenital disorders.

Summary:

  • Development involves complex, epigenetically regulated gene networks, including those for cell adhesion and transcription factors.
  • A newly identified human gene on 11p13, a paired box- and homeobox-containing gene, causes aniridia.
  • This human mutation is homologous to the mouse Pax-6 gene mutation causing the Sey (small eye) phenotype.

Impact:

  • The identification of the 11p13 gene provides a direct link between specific gene mutations and human developmental disorders like aniridia.
  • This finding underscores the importance of homologous animal models in understanding human development and disease.
  • Advances in developmental biology offer new insights into the genetic regulation of embryonic development and congenital anomalies.

Related Experiment Videos