Development: Disorders

Romeo Carrozzo, IRCCS Ospedale San Raffaele, Milan, Italy
Edoardo Boncinelli, Università Vita‐Salute San Raffaele, Milan, Italy

Published online: January 2006

DOI: 10.1038/npg.els.0005507

Development is the process leading to completely differentiated tissues an organs derived from a single fertilized egg. Many advances have been made toward understanding the molecular and biological basis of the cellular events involved in normal development, which allow us to foresee the classification of genetic and acquired disorders of development.

Keywords: development; organogenesis; brain development; homeotic genes; cell migration

 References
    Bertolino E, Wildt S, Richards G and Clerc RG (1996) Expression of a novel murine homeobox gene in the developing cerebellar external granular layer during its proliferation. Developmental Dynamics 205: 410–420.
    Boncinelli E (1997) Homeobox genes and disease. Current Opinion in Genetics and Development 7: 331–337.
    Brunelli S, Faiella A, Capra V, et al. (1996) Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nature Genetics 12: 94–96.
    Feng Y, Olson EC, Stukenberg PT, et al. (2000) LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. Neuron 28: 665–679.
    Liu Z, Steward R and Luo L (2000) Drosophila Lis1 is required for neuroblast proliferation, dendritic elaboration and axonal transport. Nature Cell Biology 2: 776–783.
    Parnavelas JG (2000) The origin and migration of neurones. New vistas. Trends in Neurological Science 23: 126–131.
    Reiner O, Carrozzo R, Shen Y, et al. (1993) Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364: 717–721.
    Roelink H, Porter J, Chiang C, et al. (1995) Floor plate and motor neuron induction by different concentrations of the amino terminal cleavage product of sonic hedgehog autoproteolysis. Cell 81: 445–455.
    Villavicencio EH, Walterhouse DO and Iannaccone PM (2000) The Sonic Hedgehog–Patched–Gli pathway in human development and disease. American Journal of Human Genetics 67: 1047–1054.
 Further Reading
    Boncinelli E, Mallamaci A and Broccoli V (1998) Body plan genes and human malformation. Advances in Genetics 38: 1–29.
    McGinnis W and Krumlauf R (1992) Homeobox genes and axial patterning. Cell 68: 283–302.
    Nanni L, Schelper RL and Muenke M (2000) Molecular genetics of holoprosencephaly. Frontiers in Bioscience 5: 334–342.
    Reiner O (2000) LIS1: let's interact sometimes (part 1). Neuron 28: 633–636.
    Vallee RB, Tai C and Faulkner NE (2001) LIS1: cellular function of a disease-causing gene. Trends in Cell Biology 11: 155–160.
 Web Links
    ePath Empty spiracles homolog 2 (Drosophila) (EMX2); Locus ID: 2018. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2018
    ePath Orthodenticle homolog 1 (Drosophila) (OTX1); Locus ID: 5013. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5013
    ePath Paired box gene 2 (PAX2); Locus ID: 5076. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5076
    ePath Sonic hedgehog homolog (Drosophila) (SHH); Locus ID: 6469. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6469
    ePath TGFB-induced factor (TALE family homeobox) (TGIF); Locus ID: 7050. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=7050
    ePath Empty spiracles homolog 2 (Drosophila) (EMX2); MIM number: 600035. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600035
    ePath Orthodenticle homolog 1 (Drosophila) (OTX1); MIM number: 600036. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600036
    ePath Paired box gene 2 (PAX2); MIM number: 167409. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?167409
    ePath Sonic hedgehog homolog (Drosophila) (SHH); MIM number: 600725. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600725
    ePath TGFB-induced factor (TALE family homeobox) (TGIF); MIM number: 602630. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?602630

Related Sub-Topics:

Organisation of the Nervous System | Development of Vertebrate Nervous System | Developmental Disorders | Growth and Development | Specific Genetic Disorders | Mutational Mechanisms of Genetic Disease
Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

Article Title: Development: Disorders
 
How to Cite close
Carrozzo, Romeo, and Boncinelli, Edoardo(Jan 2006) Development: Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005507]