Increased Gene Dosage at Xq26–q27 Is Associated with X-Linked Hypopituitarism
| Autor: | Paul Q. Thomas, Sara Nouri, Maria Lagerström-Fermér, Garry L. Warne, Nicola M. Solomon, Susan M. Forrest |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Male
Genetics X Chromosome Dosage compensation Genetic Linkage Breakpoint Gene Dosage Hypopituitarism Biology Physical Chromosome Mapping medicine.disease Gene dosage Genetic linkage Dosage Compensation Genetic Gene Duplication Gene duplication medicine Humans Female Gene In Situ Hybridization Fluorescence X chromosome |
| Zdroj: | Genomics. 79:553-559 |
| ISSN: | 0888-7543 |
| DOI: | 10.1006/geno.2002.6741 |
| Popis: | 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 break-points 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect