Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology Pub Date : 2009-01-01 Epub Date: 2009-08-12 DOI:10.1007/s10577-009-9059-5

Elisabeth M Lodder, Bert H Eussen, Daniëlla A C M van Hassel, A Jeannette M Hoogeboom, Pino J Poddighe, J Henk Coert, Ben A Oostra, Annelies de Klein, Esther de Graaff

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引用次数: 9

Abstract

Apparently balanced chromosomal inversions may lead to disruption of developmentally important genes at the breakpoints of the inversion, causing congenital malformations. Characterization of such inversions may therefore lead to new insights in human development. Here, we report on a de novo inversion of chromosome 7 (p15.2q36.3) in a patient with postaxial polysyndactyly. The breakpoints do not disrupt likely candidate genes for the limb phenotype observed in the patient. However, on the p-arm the breakpoint separates the HOXA cluster from a gene desert containing several conserved noncoding elements, suggesting that a disruption of a cis-regulatory circuit of the HOXA cluster could be the underlying cause of the phenotype in this patient.

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轴后多指畸形患者HOXA簇远距离调控的意义。

显然，平衡的染色体倒位可能导致在倒位断点处发育重要基因的破坏，导致先天性畸形。因此，这种倒置的特征可能会导致人类发展的新见解。在这里，我们报道了一例轴后多指畸形患者的7号染色体(p15.2q36.3)重新反转。断点不会破坏在患者中观察到的肢体表型的可能候选基因。然而，在p臂上，断点将HOXA簇从包含几个保守非编码元件的基因沙漠中分离出来，这表明HOXA簇的顺式调控回路的破坏可能是该患者表型的潜在原因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology

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