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https://hdl.handle.net/2440/34831
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Type: | Journal article |
Title: | Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism |
Author: | Solomon, N. Nouri, S. Warne, G. Lagerstrom-Fermer, M. Forrest, S. Thomas, P. |
Citation: | Genomics, 2002; 79(4):553-559 |
Publisher: | Academic Press Inc Elsevier Science |
Issue Date: | 2002 |
ISSN: | 0888-7543 1089-8646 |
Statement of Responsibility: | Nicola M. Solomon, Sara Nouri, Garry L. Warne, Maria Lagerstrom-Fermer, Susan M. Forrest, and Paul Q. Thomas |
Abstract: | We have identified a novel interstitial duplication at Xq26.1–q27.3 in a previously reported family with X-linked recessive hypopituitarism [1]. Mapping of the duplication was carried out using interphase FISH analysis of over 60 bacterial genomic clones from Xq25–q28. The proximal and distal breakpoints of the duplication are contained within the 432N13 and 91O18 clones, respectively, and are separated by approximately 9 Mb. Comparison with a recently published 13-Mb duplication in another XH family [2] indicated that the duplication breakpoints in these families were different. Therefore, we conclude that X-linked hypopituitarism is caused by increased dosage of a gene that is critical for pituitary development and that the causative gene is located within the 9-Mb duplicated region that we have defined. |
Keywords: | X chromosome, duplication, hypopituitarism, gene dosage, X-linked |
DOI: | 10.1006/geno.2002.6741 |
Description (link): | http://www.elsevier.com/wps/find/journaldescription.cws_home/622838/description#description |
Published version: | http://dx.doi.org/10.1006/geno.2002.6741 |
Appears in Collections: | Aurora harvest Molecular and Biomedical Science publications |
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