English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Genes and quadrupedal locomotion in humans

Humphrey, N., Mundlos, S., & Türkmen, S. (2008). Genes and quadrupedal locomotion in humans. Proceedings of the National Academy of Sciences of the United States of America, 105(21), E26-E26. Retrieved from http://www.pnas.org/content/105/21/E26.full.pdf+html.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7FD9-C Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7FDA-A
Genre: Journal Article
Alternative Title : P Natl Acad Sci USA

Files

show Files
hide Files
:
E26.full.pdf (Any fulltext), 67KB
 
File Permalink:
-
Name:
E26.full.pdf
Description:
-
Visibility:
Restricted (Max Planck Institute for Molecular Genetics, Berlin; )
MIME-Type / Checksum:
application/pdf
Technical Metadata:
Copyright Date:
-
Copyright Info:
eDoc_access: MPG
License:
-

Locators

show

Creators

show
hide
 Creators:
Humphrey, Nicholas, Author
Mundlos, Stefan1, Author              
Türkmen, Seval2, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

Content

show
hide
Free keywords: -
 Abstract: Ozcelik et al. (1) argue that mutations in VLDLR “cause quadrupedal locomotion in humans.” We have studied two of the families described in their paper, family A (2) and family B (3, 4). We have also investigated a family in Iraq in which four adult siblings habitually walk on all fours (ref. 5 and unpublished observations). If, as suggested, the condition is caused by a mutation that “leads to abnormal formation of the structures that are critical for gait,” we would expect quadrupedalism to occur when—but only when—this specific mutation is present. However, it turns out that the Iraqi family and three of the four Turkish families each carry a different mutation. Moreover, in Turkish family B, one individual with the same homozygous mutation as his affected siblings is not quadrupedal; and, in Hutterite families in North America, none of those with the same homozygous mutation as the affected individuals in families A and D are quadrupedal. In light of this, our conclusions are different from those of Ozcelik et al. We see quadrupedal locomotion as an adaptive—and undoubtedly effective—compensation for problems with balance caused by congenital cerebellar hypoplasia. We believe that the fact that this gait has not been “corrected” in the families under study must be attributed to the local cultural environment. As was proved with family B, during the making of a TV documentary, the provision of a walker could indeed make all the difference (see ref. 6).

Details

show
hide
Language(s): eng - English
 Dates: 2008-05-15
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Proceedings of the National Academy of Sciences of the United States of America
  Alternative Title : P Natl Acad Sci USA
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 105 (21) Sequence Number: - Start / End Page: E26 - E26 Identifier: -