Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia
Novel SOX9 expression during human pancreas development correlates to abnormalities in Campomelic dysplasia
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DOI：
10.1016/s0925-4773(02)00145-4
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发表时间：
2002-08-01
影响因子：
2.6
通讯作者：
Hanley, NA
中科院分区：
文献类型：
--
作者：
Piper, K;Ball, SG;Hanley, NA
编码同源结构域转录因子的SOX9的单倍性不足导致camomelic dysplasia。这种疾病的典型特征（如骨骼发育不良和46，xy性别逆转）与人类胚胎发育过程中的SOX9表达谱一致。我们报告了SOX9在人类胚胎发生过程中在整个胰腺中的强劲表达，其检测水平相当于发育中的骨骼和睾丸。在胎儿早期，SOX9的表达下降，特别是在胰岛中不明显。在保持这种情况下，检查三例坎贝尔型异常增生显示异常胰腺形态。上皮细胞间质基质中不太密集,少小岛显然形成变量表达式的激素和P细胞标记。综上所述，这些数据表明SOX9在人类胚胎发生和胎儿早期胰腺发育中具有新的潜在作用。(C) 2002爱思唯尔科学爱尔兰有限公司版权所有。
Haploinsufficiency of SOX9, which encodes a homeodomain transcription factor, results in Campomelic dysplasia. Classical features of this disorder (e.g. skeletal dysplasia and 46,XY sex reversal) are in concordance with SOX9 expression profiles during human embryonic development. We report the robust expression of SOX9 throughout the pancreas during human embryogenesis, at levels of detection equivalent to the developing skeleton and testis. In the early foetal period, SOX9 expression declines and, in particular, is not apparent within the pancreatic islets. In keeping with this profile, examination of three cases with Campomelic dysplasia revealed abnormal pancreatic morphology. Epithelial cells were less densely packed within the mesenchymal stroma and islets less clearly formed with variable expression of hormone and P cell markers. Taken together, these data indicate a novel potential role for SOX9 in pancreas development during human embryogenesis and early foetal life. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.