HOME :: CHAPTER 18  :: 18.1 HUMAN EMBRYOLOGY AND GENETICS :: HUMAN EMBRYOLOGY AND GENETICS

PREVIOUS :: NEXT

Human Embryology and Genetics

Developmental biology is that science connecting genetics with anatomy and which makes sense out of both. Developmental biology is therefore the science that connects the inherited genotype with the observable phenotype, and which studies the mechanism by which the genome specifies the characteristics of the individual human body. To study human genetics without developmental biology is like studying a culture only by reading its books; and to study anatomy without developmental biology is to visit a foreign land without knowing its language or history.

One of the fascinating aspects of human genetics has been the realization that there are more regulatory mutations known than there are mutations known in amino acid sequences. That is to say, there appears to be more functional changes in enhancers, promoters, and splice junctions than there are in exons (Rockman and Wray, 2002).

Keeping abreast of all the mutations found in Homo sapiens would be impossible were it not for a remarkable catalogue called the Online Mendelian Inheritance in Man, or OMIM, for short. This catalog of human genes and genetic disorders is authored and edited by Dr. Victor A. McKusick and his colleagues, centered at the Johns Hopkins University School of Medicine, and it was redesigned for the World Wide Web by NCBI, the National Center for Biotechnology Information. This database contains textual information, pictures, and references, as well as links to the original articles. It is worth exploring this site.

Literature Cited

Rockman MV, Wray GA. 2002 Abundant raw material for cis-regulatory evolution in humans. Mol. Biol. Evol. 19: 1991–2004.

© All the material on this website is protected by copyright. It may not be reproduced in any form without permission from the copyright holder.

HOME :: CHAPTER 18  :: 18.1 HUMAN EMBRYOLOGY AND GENETICS :: HUMAN EMBRYOLOGY AND GENETICS

PREVIOUS :: NEXT

Home Link