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

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

doi:https://doi.org/10.1007/s10577-009-9059-5

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

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

Other Departments

Research output: Contribution to journal › Article › Academic › peer-review

7 Citations (Scopus)

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

Original language	English
Pages (from-to)	737-744
Journal	Chromosome research
Volume	17
Issue number	6
DOIs	https://doi.org/10.1007/s10577-009-9059-5
Publication status	Published - 2009

Access to Document

https://doi.org/10.1007/s10577-009-9059-5

Cite this

@article{b84a3df81e374d2bb1f860b9ee783fee,

title = "Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly",

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",

author = "Lodder, {Elisabeth M.} and Eussen, {Bert H.} and {van Hassel}, {Dani{\"e}lla A. C. M.} and Hoogeboom, {A. Jeannette M.} and Poddighe, {Pino J.} and Coert, {J. Henk} and Oostra, {Ben A.} and {de Klein}, Annelies and {de Graaff}, Esther",

year = "2009",

doi = "https://doi.org/10.1007/s10577-009-9059-5",

language = "English",

volume = "17",

pages = "737--744",

journal = "Chromosome research",

issn = "0967-3849",

publisher = "Springer Netherlands",

number = "6",

}

TY - JOUR

T1 - Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly

AU - Lodder, Elisabeth M.

AU - Eussen, Bert H.

AU - van Hassel, Daniëlla A. C. M.

AU - Hoogeboom, A. Jeannette M.

AU - Poddighe, Pino J.

AU - Coert, J. Henk

AU - Oostra, Ben A.

AU - de Klein, Annelies

AU - de Graaff, Esther

PY - 2009

Y1 - 2009

N2 - 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

AB - 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

U2 - https://doi.org/10.1007/s10577-009-9059-5

DO - https://doi.org/10.1007/s10577-009-9059-5

M3 - Article

C2 - 19672683

SN - 0967-3849

VL - 17

SP - 737

EP - 744

JO - Chromosome research

JF - Chromosome research

IS - 6

ER -