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Abstract
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.
Authors
Daniel Kelberman, Karine Rizzoti, Ariel Avilion, Maria Bitner-Glindzicz, Stefano Cianfarani, Julie Collins, W. Kling Chong, Jeremy M.W. Kirk, John C. Achermann, Richard Ross, Danielle Carmignac, Robin Lovell-Badge, Iain C.A.F. Robinson, Mehul T. Dattani
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Citation information
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The HMG-Box Transcription Factor Sox4b Is Required for Pituitary Expression of gata2a and Specification of Thyrotrope and Gonadotrope Cells in Zebrafish
Y Quiroz, M Lopez, A Mavropoulos, P Motte, JA Martial, M Hammerschmidt, M Muller |
Molecular Endocrinology | 2012 |
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Detailed analysis of the δ-crystallin mRNA-expressing region in early development of the chick pituitary gland
M Inoue, T Shiina, S Aizawa, I Sakata, H Takagi, T Sakai |
Journal Of Molecular Histology | 2012 |
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Etiology and Treatment of Hypogonadism in Adolescents
V Viswanathan, EA Eugster |
Pediatric Clinics of North America | 2011 |
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Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring
Z Stark, R Storen, B Bennetts, R Savarirayan, RV Jamieson |
European Journal of Human Genetics | 2011 |
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OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype
KF Schilter, A Schneider, T Bardakjian, JF Soucy, RC Tyler, LM Reis, EV Semina |
Clinical Genetics | 2011 |
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A distal modular enhancer complex acts to control pituitary- and nervous system-specific expression of the LHX3 regulatory gene
RD Mullen, S Park, SJ Rhodes |
Molecular Endocrinology | 2011 |
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Eye development genes and known syndromes
AM Slavotinek |
Molecular Genetics and Metabolism | 2011 |
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SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours
KS Alatzoglou, CL Andoniadou, D Kelberman, CR Buchanan, J Crolla, MC Arriazu, M Roubicek, D Moncet, JP Martinez-Barbera, MT Dattani |
Human Mutation | 2011 |
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Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction
MJ McCabe, C Gaston-Massuet, V Tziaferi, LC Gregory, KS Alatzoglou, M Signore, E Puelles, D Gerrelli, IS Farooqi, J Raza, J Walker, SI Kavanaugh, PS Tsai, N Pitteloud, JP Martinez-Barbera, MT Dattani |
The Journal of clinical endocrinology and metabolism | 2011 |
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Phenotype-Genotype Correlations in Congenital Isolated Growth Hormone Deficiency (IGHD)
KS Alatzoglou, MT Dattani |
The Indian Journal of Pediatrics | 2011 |
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The role of homeodomain transcription factors in heritable pituitary disease
KL Prince, EC Walvoord, SJ Rhodes |
Nature Reviews Endocrinology | 2011 |
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SOX2 and CHD7 cooperatively regulate human disease genes
J Puc, MG Rosenfeld |
Nature Genetics | 2011 |
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Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes
E Engelen, U Akinci, JC Bryne, J Hou, C Gontan, M Moen, D Szumska, C Kockx, W van IJcken, DH Dekkers, J Demmers, EJ Rijkers, S Bhattacharya, S Philipsen, LH Pevny, FG Grosveld, RJ Rottier, B Lenhard, RA Poot |
Nature Genetics | 2011 |
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Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes
SW Davis, F Castinetti, LR Carvalho, BS Ellsworth, MA Potok, RH Lyons, ML Brinkmeier, LT Raetzman, P Carninci, AH Mortensen, Y Hayashizaki, IJ Arnhold, BB Mendonça, T Brue, SA Camper |
Molecular and Cellular Endocrinology | 2010 |
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Sox2 is essential for formation of trophectoderm in the preimplantation embryo
M Keramari, J Razavi, KA Ingman, C Patsch, F Edenhofer, CM Ward, SJ Kimber |
PloS one | 2010 |
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Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort
C Mellado, A Poduri, D Gleason, PC Elhosary, BJ Barry, JN Partlow, BS Chang, GM Shaw, AJ Barkovich, CA Walsh |
American journal of medical genetics. Part A | 2010 |
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Calmodulin-dependent nuclear import of HMG-box family nuclear factors: importance of the role of SRY in sex reversal
G Kaur, A Delluc-Clavieres, IK Poon, JK Forwood, DJ Glover, DA Jans |
Biochemical Journal | 2010 |
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A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency
L Ashkenazi-Hoffnung, Y Lebenthal, AW Wyatt, NK Ragge, S Dateki, M Fukami, T Ogata, M Phillip, G Gat-Yablonski |
Human Genetics | 2010 |
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A GRFa2/Prop1/stem (GPS) cell niche in the pituitary
M Garcia-Lavandeira, V Quereda, I Flores, C Saez, E Diaz-Rodriguez, MA Japon, AK Ryan, MA Blasco, C Dieguez, M Malumbres, CV Alvarez |
PloS one | 2009 |
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Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd |
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2009 |
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Discovery of transcriptional regulators and signaling pathways in the developing pituitary gland by bioinformatic and genomic approaches
ML Brinkmeier, SW Davis, P Carninci, JW MacDonald, J Kawai, D Ghosh, Y Hayashizaki, RH Lyons, SA Camper |
Genomics | 2009 |
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Etiology and Treatment of Hypogonadism in Adolescents
V Viswanathan, EA Eugster |
Endocrinology & Metabolism Clinics of North America | 2009 |
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Septo-optic dysplasia
EA Webb, MT Dattani |
European journal of human genetics : EJHG | 2009 |
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The molecular basis of hypopituitarism
CJ Romero, S Nesi-França, S Radovick |
Trends in Endocrinology & Metabolism | 2009 |
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Genetic Regulation of Pituitary Gland Development in Human and Mouse
D Kelberman, K Rizzoti, R Lovell-Badge, IC Robinson, MT Dattani |
Endocrine reviews | 2009 |
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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia
A Schneider, T Bardakjian, LM Reis, RC Tyler, EV Semina |
American journal of medical genetics. Part A | 2009 |
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Complex architecture and regulated expression of the Sox2ot locus during vertebrate development
PP Amaral, C Neyt, SJ Wilkins, ME Askarian-Amiri, SM Sunkin, AC Perkins, JS Mattick |
RNA (New York, N.Y.) | 2009 |
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Specification of cell fate in the mammalian cochlea
EC Driver, MW Kelley |
Birth defects research. Part C, Embryo today : reviews | 2009 |
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Regulation of cell fate and patterning in the developing mammalian cochlea
MW Kelley, EC Driver, C Puligilla |
Current Opinion in Otolaryngology & Head and Neck Surgery | 2009 |
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Novel SOX2 partner-factor domain mutation in a four-generation family
M Mihelec, P Abraham, K Gibson, R Krowka, R Susman, R Storen, Y Chen, J Donald, PP Tam, JR Grigg, M Flaherty, GA Gole, RV Jamieson |
European journal of human genetics : EJHG | 2009 |
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Genetics, gene expression and bioinformatics of the pituitary gland
SW Davis, MA Potok, ML Brinkmeier, P Carninci, RH Lyons, JW MacDonald, MT Fleming, AH Mortensen, N Egashira, D Ghosh, KP Steel, RY Osamura, Y Hayashizaki, SA Camper |
Hormone Research | 2009 |
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Hippocampal development and neural stem cell maintenance require Sox2-dependent regulation of Shh
R Favaro, M Valotta, AL Ferri, E Latorre, J Mariani, C Giachino, C Lancini, V Tosetti, S Ottolenghi, V Taylor, SK Nicolis |
Nature Neuroscience | 2009 |
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The Molecular Mechanism of Induced Pluripotency: A Two-Stage Switch
W Scheper, S Copray |
Stem Cell Reviews and Reports | 2009 |
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Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism
E Sajedi, C Gaston-Massuet, M Signore, CL Andoniadou, D Kelberman, S Castro, HC Etchevers, D Gerrelli, MT Dattani, JP Martinez-Barbera |
Disease models & mechanisms | 2008 |
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SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development
D Kelberman, SC de Castro, S Huang, JA Crolla, R Palmer, JW Gregory, D Taylor, L Cavallo, MF Faienza, R Fischetto, JC Achermann, JP Martinez-Barbera, K Rizzoti, R Lovell-Badge, IC Robinson, D Gerrelli, MT Dattani |
The Journal of clinical endocrinology and metabolism | 2008 |
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SOX2-expressing progenitor cells generate all of the major cell types in the adult mouse pituitary gland
T Fauquier, K Rizzoti, M Dattani, R Lovell-Badge, IC Robinson |
Proceedings of the National Academy of Sciences | 2008 |
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Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus
DW Craig, A Itty, C Panganiban, S Szelinger, MC Kruer, A Sekar, D Reiman, V Narayanan, DA Stephan, JF Kerrigan |
The American Journal of Human Genetics | 2008 |
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Maternal infection leads to abnormal gene regulation and brain atrophy in mouse offspring: implications for genesis of neurodevelopmental disorders
SH Fatemi, TJ Reutiman, TD Folsom, H Huang, K Oishi, S Mori, DF Smee, DA Pearce, C Winter, R Sohr, G Juckel |
Schizophrenia Research | 2008 |
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Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development
C Gaston-Massuet, CL Andoniadou, M Signore, E Sajedi, S Bird, JM Turner, JP Martinez-Barbera |
Developmental Biology | 2008 |
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Genetics of septo-optic dysplasia
D Kelberman, MT Dattani |
Pituitary | 2007 |
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Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors
V Lefebvre, B Dumitriu, A Penzo-Méndez, Y Han, B Pallavi |
The International Journal of Biochemistry & Cell Biology | 2007 |
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SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
P Bakrania, DO Robinson, DJ Bunyan, A Salt, A Martin, JA Crolla, A Wyatt, A Fielder, J Ainsworth, A Moore, S Read, J Uddin, D Laws, D Pascuel-Salcedo, C Ayuso, L Allen, JR Collin, NK Ragge |
The British journal of ophthalmology | 2007 |
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Hypothalamic hamartoma with bilateral anophthalmia
B Bilginer, A Akbay, N Akalan |
Child's Nervous System | 2007 |
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