干旱区生态环境知识资源中心(Arid): Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly

Arid

DOI	10.1007/s10577-009-9059-5
	Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly
	Lodder, Elisabeth M.1; Eussen, Bert H.1; van Hassel, Daniella A. C. M.1; Hoogeboom, A. Jeannette M.1; Poddighe, Pino J.1; Coert, J. Henk 2; Oostra, Ben A.1; de Klein, Annelies 1; de Graaff, Esther 1
通讯作者	de Graaff, Esther
来源期刊	CHROMOSOME RESEARCH
ISSN	0967-3849
EISSN	1573-6849
出版年	2009
卷号	17 期号:6 页码:737-744
英文摘要	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.
英文关键词	pericentric chromosomal inversion postaxial polysyndactyly congenital malformation chromosome 7 HOXA cluster
类型	Article
语种	英语
国家	Netherlands
收录类别	SCI-E
WOS记录号	WOS:000270648100003
WOS关键词	ANTIOXIDANT-RESPONSE ELEMENT ; TRANSCRIPTION FACTOR ; MEIOTIC SEGREGATION ; EXPRESSION ; GENE ; NRF3 ; FAMILY ; LIMB ; INVERSION ; UPSTREAM
WOS类目	Biochemistry & Molecular Biology ; Genetics & Heredity
WOS研究方向	Biochemistry & Molecular Biology ; Genetics & Heredity
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/160172
作者单位	1.Erasmus MC, Dept Clin Genet, NL-3000 CA Rotterdam, Netherlands; 2.Erasmus MC, Dept Plast Surg, NL-3000 CA Rotterdam, Netherlands
推荐引用方式 GB/T 7714	Lodder, Elisabeth M.,Eussen, Bert H.,van Hassel, Daniella A. C. M.,et al. Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly[J],2009,17(6):737-744.
APA	Lodder, Elisabeth M..,Eussen, Bert H..,van Hassel, Daniella A. C. M..,Hoogeboom, A. Jeannette M..,Poddighe, Pino J..,...&de Graaff, Esther.(2009).Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.CHROMOSOME RESEARCH,17(6),737-744.
MLA	Lodder, Elisabeth M.,et al."Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly".CHROMOSOME RESEARCH 17.6(2009):737-744.