Mutations within Sox2/SOX2
are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans
J. Clin. Invest. Daniel Kelberman, et al. 116:2442 doi:10.1172/JCI28658 [
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Figure 1
Pituitary hormone levels and immunohistochemistry in
Sox2 heterozygous mice.
(
A) GH and LH RIAs on pituitary protein extracts from 6 wild-type (XY
+/+) and 5
Sox2 heterozygous (XY
+/–) 2-month-old littermates (GH,
P = 0.004; LH,
P = 0.002) and 10 wild-type and 9
Sox2 heterozygous 18.5 dpc littermates (
P = 0.002). Both GH and LH were affected; GH deficiency appeared before birth. (
B–
E) Immunohistochemistry for GH (
B and
D) and LH (
C and
E) on pituitary sections from 3-month-old (
B and
C) and 18.5 dpc (
D and
E) wild-type and
Sox2 mutant littermates. Ant, anterior lobe; Int, intermediate lobe; Post, posterior lobe. Note the presence of extra clefts in the adult sections (arrows in
B and
C). Staining was clearly reduced in heterozygotes at 18.5 dpc (
D and
E). Scale bar: 0.3 mm (
B and
C); 0.05 mm (
D and
E).