Human Developmental Molecular Genetics

David Ian Wilson, Southampton University, Southampton, UK
Neil Anthony Hanley, Southampton University, Southampton, UK

Published online: January 2006

DOI: 10.1038/npg.els.0005923

Following the sequencing of the human genome, it is an ambitious but realistic goal to understand the genome-wide molecular regulation of normal human development, both during the embryonic (<56 days post conception (dpc)) and fetal periods (>56 dpc). The use of human pluripotent embryonic cells as far-sighted transplantation and regeneration strategies to treat human disease is an aspect of this topic.

Keywords: human; embryogenesis; stem cells; developmental biology

Figure 1. Expression of NKX2-5 in the developing heart at 41 days postconception. Transverse section through atrioventricular junction showing immunoreactivity of NKX2-5 (brown staining) within the ventricular and atrial myocardia but not in the atrioventricular endocardial cushions (antibody courtesy of Seigo Izumo). RA: right atrium; LA: left atrium; LV: left ventricle; EC: endocardial cushion.
Figure 2. Expression of IPF1 within the developing human pancreas at 41 days postconception. Bright-field immunohistochemistry image counterstained with toluidine blue. Nuclear immunoreactivity to IPF1 is visible within the epithelial cells of the human embryonic pancreas (antibody courtesy of Dr Chris Wright, Vanderbilt University). Dp: dorsal pancreas; m: mesenchyme; bar represents 200 m.
Figure 3. Embryoid bodies (EB) of differentiated cells formed from human embryonic germ (EG) cells. (a) Differentiation of EG cells in suspension culture via formation of embryoid bodies. Bar represents 1 mm. (b) Hematoxylin and eosin (H&E) staining of EB showing heterogeneous structure indicative of cells differentiated toward different cell lineages. Bar represents 100 m.
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 References
    Assady S, Maor G, Amit M, et al. (2001) Insulin production by human embryonic stem cells. Diabetes 50(8): 1691–1697.
    Basson CT, Bachinsky DR, Lin RC, et al. (1997) Mutations in human cause limb and cardiac malformation in Holt–Oram syndrome. Nature Genetics 15: 30–35.
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    Hanley NA, Hagan DM, Clement-Jones M, et al. (2000) SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mechanisms of Development 91: 403–407.
    Jones EA, Clement-Jones M, James OFW and Wilson DI (2001) Differences between human and mouse alpha-fetoprotein expression during early development. Journal of Anatomy 198(5): 555–559.
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    Li QY, Newbury-Ecob RA, Terrett JA, et al. (1997) Holt–Oram syndrome is caused by mutations in TBX5, a member of the brachyury (T) gene family. Nature Genetics 15: 21–29.
    Lumelsky N, Blondel O, Laeng P, et al. (2001) Differentiation of embryonic stem cells to insulin-secreting structures similar to pancreatic islets. Science 292(5520): 1389–1394.
    book Polkinghorne J (1989) Review on the Guidance on the Research Use of Fetuses and Fetal Material. London, UK: HMSO.
    Richardson MK, Hanken J, Gooneratne ML, et al. (1997) There is no highly conserved embryonic stage in the vertebrates: implications for current theories of evolution and development. Anatomy and Embryology 196: 91–106.
    Schott J-J, Benson DW, Basson CT, et al. (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281: 108–111.
    Stoffers DA, Ferrer J, Clarke WL and Habener JF (1997a) Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nature Genetics 17(2): 138–139.
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 Further Reading
    book Strachan T, Lindsay S and Wilson DI (eds.) (1997) Molecular Genetics of Early Human Development. Oxford, UK: BIOS Scientific Publishers Ltd.
 Web Links
    ePath http://www.wellcome.ac.uk/en/1/awtpubreprecr99hlt.html UK Human Developmental Biology Resource http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=3651
    ePath Insulin promoter factor 1, homeodomain transcription factor (IPF1); Locus ID: 3651. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=1482
    ePath NK2 transcription factor related, locus 5 (Drosophila) (NKX2-5); Locus ID: 1482. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6910
    ePath T-box 5 (TBX5); Locus ID: 6910. LocusLink: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600733
    ePath Insulin promoter factor 1, homeodomain transcription factor (IPF1); MIM number: 600733. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?600584
    ePath NK2 transcription factor related, locus 5 (Drosophila) (NKX2-5); MIM number: 600584. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601620
    ePath T-box 5 (TBX5); MIM number: 601620. OMIM:

Related Sub-Topics:

Genes, Molecules and Cellular Processes | Developmental Disorders | Organogenesis | Cell Differentiation and Stem Cells | Techniques and Tools in Molecular Biology
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Article Title: Human Developmental Molecular Genetics
 
How to Cite close
Wilson, David Ian, and Hanley, Neil Anthony(Jan 2006) Human Developmental Molecular Genetics. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0005923]