The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
Open accessAbstract
The transcription factor SOX2 is expressed most notably in the developing CNS and placodes, where it plays critical roles in embryogenesis. Heterozygous de novo mutations in SOX2 have previously been associated with bilateral anophthalmia/microphthalmia, developmental delay, short stature, and male genital tract abnormalities. Here we investigated the role of Sox2 in murine pituitary development. Mice heterozygous for a targeted disruption of Sox2 did not manifest eye defects, but showed abnormal anterior pituitary development with reduced levels of growth hormone, luteinizing hormone, and thyroid-stimulating hormone. Consequently, we identified 8 individuals (from a cohort of 235 patients) with heterozygous sequence variations in SOX2. Six of these were de novo mutations, predicted to result in truncated protein products, that exhibited partial or complete loss of function (DNA binding, nuclear translocation, or transactivation). Clinical evaluation revealed that, in addition to bilateral eye defects, SOX2 mutations were associated with anterior pituitary hypoplasia and hypogonadotropic hypogonadism, variable defects affecting the corpus callosum and mesial temporal structures, hypothalamic hamartoma, sensorineural hearing loss, and esophageal atresia. Our data show that SOX2 is necessary for the normal development and function of the hypothalamo-pituitary and reproductive axes in both humans and mice.
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Cites
The GPR54 Gene as a Regulator of Puberty
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Multipotent cell lineages in early mouse development depend on SOX2 function
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Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain
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Cited by
Clinical Management of Congenital Hypogonadotropic Hypogonadism
Young, J., Xu, C., Papadakis, G. E., Acierno, J. S., Maione, L., Hietamäki, J., Raivio, T., & Pitteloud, N. (2019) · Endocrine Reviews · doi:10.1210/er.2018-00116 · Cited by 396
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SOX2 in development and cancer biology
Novak, D., Hüser, L., Elton, J. J., Umansky, V., Altevogt, P., & Utikal, J. (2020) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2019.08.007 · Cited by 328
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes
Engelen, E., Akinci, U., Bryne, J. C., Hou, J., Gontan, C., Moen, M., Szumska, D., Kockx, C., van IJcken, W., Dekkers, D. H. W., et al. (2011) · Nature Genetics · doi:10.1038/ng.825 · Cited by 255
Fatemi, S. H., Reutiman, T. J., Folsom, T. D., Huang, H., Oishi, K., Mori, S., Smee, D. F., Pearce, D. A., Winter, C., Sohr, R., et al. (2008) · Schizophrenia Research · doi:10.1016/j.schres.2007.11.018 · Cited by 250
Metadata
- Authors
- Kelberman, D.
- Venue
- Journal of Clinical Investigation
- Published
- 2006-08-24
- Volume
- 116
- Issue
- 9
- Pages
- 2442-55
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2156730038
- Cited by
- 375
- References
- 48
- FWCI
- 18.41
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Kelberman, D. (2006). Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. Journal of Clinical Investigation. https://doi.org/10.1172/jci28658
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