Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis.
Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis.
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DOI：
10.1002/jezb.21449
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发表时间：
2012-03
影响因子：
2.2
通讯作者：
Richtsmeier, Joan T.
中科院分区：
文献类型：
--
作者：
Heuze, Yann;Martinez-Abadias, Neus;Stella, Jennifer M.;Senders, Craig W.;Boyadjiev, Simeon A.;Lo, Lun-Jou;Richtsmeier, Joan T.
脊椎动物的两侧对称是不完美的，在正常的生长发育中也有轻微的不对称。然而，异常发育往往以强烈的不对称性为特征。冠状颅缝闭合是一种复杂的特征，这里定义为过早缝合闭合和特有的颅骨形状。冠状缝合线的过早融合可发生在单侧颅骨不对称（前斜头）或双侧对称但短头颅骨。我们研究了冠状颅缝闭合与颅骨双侧对称性的关系。在诊断为冠状非综合征性颅缝闭闭的儿童（N = 40）和未受影响的儿童（N = 20）的术前计算机断层扫描图像上记录三维地标坐标，并进行几何形态计量学分析。我们的研究结果表明，冠状缝的融合模式在个体和冠状颅缝闭合类型中是相似的。形状分析表明，双侧冠状颅缝闭闭（BCS）和正常个体的头骨表现出低程度的不对称，而左右单侧冠状颅缝闭闭（UCS）的头骨则不对称，彼此镜像。当冠状缝线过早融合（不考虑颅骨畸形）被评分为定性性状时，性状频率与性状单侧表达之间的预期关系（即负相关）得到证实。总的来说，我们将我们的结果解释为相同的生物学过程在BCS头骨的两侧和UCS头骨的受影响侧起作用的证据，并且冠状颅缝闭塞是一种数量性状，表现出表型连续体，BCS比UCS表现出更强烈的形状变化。
Bilateral symmetry in vertebrates is imperfect and mild asymmetries are found in normal growth and development. However, abnormal development is often characterized by strong asymmetries. Coronal craniosynostosis, defined here as consisting of premature suture closure and a characteristic skull shape, is a complex trait. The premature fusion of the coronal suture can occur unilaterally associated with skull asymmetry (anterior plagiocephaly) or bilaterally associated with a symmetric but brachycephalic skull. We investigated the relationship between coronal craniosynostosis and skull bilateral symmetry. Three-dimensional landmark coordinates were recorded on preoperative computed tomography images of children diagnosed with coronal nonsyndromic craniosynostosis (N = 40) and that of unaffected individuals (N = 20) and analyzed by geometric morphometrics. Our results showed that the fusion pattern of the coronal suture is similar across individuals and types of coronal craniosynostosis. Shape analysis showed that skulls of bilateral coronal craniosynostosis (BCS) and unaffected individuals display low degrees of asymmetry, whereas right and left unilateral coronal craniosynostosis (UCS) skulls are asymmetric and mirror images of one another. When premature fusion of the coronal suture (without taking into account cranial dysmorphology) is scored as a qualitative trait, the expected relationship between trait frequency and trait unilateral expression (i.e. negative correlation) is confirmed. Overall, we interpret our results as evidence that the same biological processes operate on the two sides in BCS skulls and on the affected side in UCS skulls, and that coronal craniosynostosis is a quantitative trait exhibiting a phenotypic continuum with BCS displaying more intense shape changes than UCS.
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影响因子：
3.6
作者：
Arnaud, E;Meneses, P;Renier, D
通讯作者：
Renier, D
影响因子：
5.2
作者：
Johnson, D;Wall, SA;Wilkie, AOM
通讯作者：
Wilkie, AOM
影响因子：
3.1
作者：
Boyadjiev, S. A.
通讯作者：
Boyadjiev, S. A.
影响因子：
3.3
作者：
Klingenberg, CP;McIntyre, GS
通讯作者：
McIntyre, GS
影响因子：
2.7
作者：
Jiang, XB;Iseki, S;Morriss-Kay, GM
通讯作者：
Morriss-Kay, GM