The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Mammalian sex determination—insights from humans and mice
Open accessAbstract
Disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical. Many of the genes required for gonad development have been identified by analysis of DSD patients. However, the use of knockout and transgenic mouse strains have contributed enormously to the study of gonad gene function and interactions within the development network. Although the genetic basis of mammalian sex determination and differentiation has advanced considerably in recent years, a majority of 46,XY gonadal dysgenesis patients still cannot be provided with an accurate diagnosis. Some of these unexplained DSD cases may be due to mutations in novel DSD genes or genomic rearrangements affecting regulatory regions that lead to atypical gene expression. Here, we review our current knowledge of mammalian sex determination drawing on insights from human DSD patients and mouse models.
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Cites
Consensus Statement on Management of Intersex Disorders
Lee, P. A., Houk, C. P., Ahmed, S. F., Hughes, I. A., & in collaboration with the participants in the International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology (2006) · Pediatrics · doi:10.1542/peds.2006-0738 · Cited by 2,324
Luo, X., Ikeda, Y., & Parker, K. L. (1994) · Cell · doi:10.1016/0092-8674(94)90211-9 · Cited by 1,631 · cited 1×
“Orthologous genes are found in a medaka species (Dmy) on the Y chromosome (Lutfalla et al. 2003) and in chicken (Dmrt1) on the Z sex chromosome (Nanda et al. 1999).”
BackgroundRole of the GATA Family of Transcription Factors in Endocrine Development, Function, and Disease
Viger, R. S., Guittot, S. M., Anttonen, M., Wilson, D. B., & Heikinheimo, M. (2008) · Molecular Endocrinology · doi:10.1210/me.2007-0513 · Cited by 270 · cited 2×
“Those complexes regulate key steroidogenic genes, such as STAR (encoding steroidogenic acute regulatory protein), CYP19A1 (encoding aromatase), INHA (encoding inhibin α-subunit), and HSD3B2 (encoding 3 beta-hydroxysteroid dehydrogenase/delta 5-4-isomerase type 2) (Viger et al. 2008; Nishida et al. 2008; Miyamoto et al…”
BackgroundWallace, P., Murray, E., McCambridge, J., Khadjesari, Z., White, I. R., Thompson, S. G., Kalaitzaki, E., Godfrey, C., & Linke, S. (2011) · PLoS ONE · doi:10.1371/journal.pone.0014740 · Cited by 114
Cited by
Svingen, T., & Koopman, P. (2013) · Genes & Development · doi:10.1101/gad.228080.113 · Cited by 386
Sex determination, gonadal sex differentiation, and plasticity in vertebrate species
Nagahama, Y., Chakraborty, T., Paul-Prasanth, B., Ohta, K., & Nakamura, M. (2021) · Physiological Reviews · doi:10.1152/physrev.00044.2019 · Cited by 346
Yotova, I., Hsu, E., Do, C., Gaba, A., Sczabolcs, M., Dekan, S., Kenner, L., Wenzl, R., & Tycko, B. (2017) · PLOS ONE · doi:10.1371/journal.pone.0170859 · Cited by 81
Metadata
- Authors
- Eggers, S., & Sinclair, A.
- Venue
- Chromosome Research
- Published
- 2012-01
- Volume
- 20
- Issue
- 1
- Pages
- 215-238
- ISSN
- 0967-3849 (ISSN-L)
- 1573-6849
- OpenAlex
- W2053795445
- Cited by
- 170
- References
- 4
- FWCI
- 8.68
- Type
- journal article
- Language
- en
- Open access
- hybrid
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