"Devolution" of bipedality

doi:10.1073/pnas.0802584105

Comment

. 2008 May 27;105(21):E25.

doi: 10.1073/pnas.0802584105. Epub 2008 May 16.

"Devolution" of bipedality

Joachim Herz, Kym M Boycott, Jillian S Parboosingh

PMID: 18487453
PMCID: PMC2396673
DOI: 10.1073/pnas.0802584105

Comment

"Devolution" of bipedality

Joachim Herz et al. Proc Natl Acad Sci U S A. 2008.

. 2008 May 27;105(21):E25.

doi: 10.1073/pnas.0802584105. Epub 2008 May 16.

Authors

Joachim Herz, Kym M Boycott, Jillian S Parboosingh

PMID: 18487453
PMCID: PMC2396673
DOI: 10.1073/pnas.0802584105

No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Comment in

Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion.
Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. Ozcelik T, et al. Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):E32-3. doi: 10.1073/pnas.0804078105. Proc Natl Acad Sci U S A. 2008. PMID: 18544652 Free PMC article. No abstract available.

Comment on

Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.
Ozcelik T, Akarsu N, Uz E, Caglayan S, Gulsuner S, Onat OE, Tan M, Tan U. Ozcelik T, et al. Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4232-6. doi: 10.1073/pnas.0710010105. Epub 2008 Mar 7. Proc Natl Acad Sci U S A. 2008. PMID: 18326629 Free PMC article.

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Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.
Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M. Kolb LE, et al. Neurogenetics. 2010 Jul;11(3):319-25. doi: 10.1007/s10048-009-0232-y. Epub 2010 Jan 15. Neurogenetics. 2010. PMID: 20082205
Two families with quadrupedalism, mental retardation, no speech, and infantile hypotonia (Uner Tan Syndrome Type-II); a novel theory for the evolutionary emergence of human bipedalism.
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A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
Ali BR, Silhavy JL, Gleeson MJ, Gleeson JG, Al-Gazali L. Ali BR, et al. BMC Med Genet. 2012 Sep 14;13:80. doi: 10.1186/1471-2350-13-80. BMC Med Genet. 2012. PMID: 22973972 Free PMC article.
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References

1. Ozcelik T, et al. Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci USA. 2008;105:4232–4236. - PMC - PubMed
1. Trommsdorff M, et al. Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2. Cell. 1999;97:689–701. - PubMed
1. Boycott KM, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet. 2005;77:477–483. - PMC - PubMed
1. Moheb LA, et al. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet. 2008;16:270–273. - PubMed
1. Tan U, et al. Unertan syndrome: A case series demonstrating human devolution. Int J Neurosci. 2008;118:1–25. - PubMed

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[1] Ozcelik T, et al. Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci USA. 2008;105:4232–4236. - PMC - PubMed

[2] Ozcelik T, et al. Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans. Proc Natl Acad Sci USA. 2008;105:4232–4236. - PMC - PubMed

[3] Trommsdorff M, et al. Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2. Cell. 1999;97:689–701. - PubMed

[4] Trommsdorff M, et al. Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2. Cell. 1999;97:689–701. - PubMed

[5] Boycott KM, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet. 2005;77:477–483. - PMC - PubMed

[6] Boycott KM, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet. 2005;77:477–483. - PMC - PubMed

[7] Moheb LA, et al. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet. 2008;16:270–273. - PubMed

[8] Moheb LA, et al. Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet. 2008;16:270–273. - PubMed

[9] Tan U, et al. Unertan syndrome: A case series demonstrating human devolution. Int J Neurosci. 2008;118:1–25. - PubMed

[10] Tan U, et al. Unertan syndrome: A case series demonstrating human devolution. Int J Neurosci. 2008;118:1–25. - PubMed

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"Devolution" of bipedality

"Devolution" of bipedality

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