Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
Publication/Presentation Date
3-1-2008
Abstract
Apparently balanced chromosomal rearrangements in individuals with major congenital anomalies represent natural experiments of gene disruption and dysregulation. These individuals can be studied to identify novel genes critical in human development and to annotate further the function of known genes. Identification and characterization of these genes is the goal of the Developmental Genome Anatomy Project (DGAP). DGAP is a multidisciplinary effort that leverages the recent advances resulting from the Human Genome Project to increase our understanding of birth defects and the process of human development. Clinically significant phenotypes of individuals enrolled in DGAP are varied and, in most cases, involve multiple organ systems. Study of these individuals' chromosomal rearrangements has resulted in the mapping of 77 breakpoints from 40 chromosomal rearrangements by FISH with BACs and fosmids, array CGH, Southern-blot hybridization, MLPA, RT-PCR, and suppression PCR. Eighteen chromosomal breakpoints have been cloned and sequenced. Unsuspected genomic imbalances and cryptic rearrangements were detected, but less frequently than has been reported previously. Chromosomal rearrangements, both balanced and unbalanced, in individuals with multiple congenital anomalies continue to be a valuable resource for gene discovery and annotation.
Volume
82
Issue
3
First Page
712
Last Page
722
ISSN
1537-6605
Published In/Presented At
Higgins, A., Alkuraya, F., Bosco, A., Brown, K., Bruns, G., Donovan, D., Eisenman, R., Fan, Y., Farra, C., Ferguson, H., Gusella, J., Harris, D., Herrick, S., Kelly, C., Kim, H., Kishikawa, S., Korf, B., Kulkarni, S., Lally, E., Leach, N., Lemyre, E., Lewis, J., Ligon, A., Lu, W., Maas, R., MacDonald, M., Moore, S., Peters, R., Quade, B., Quintero-Rivera, F., Saadi, I., Shen, Y., Shendure, J., Williamson, R., & Morton, C. (2008). Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.. LVHN Scholarly Works. Retrieved from https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/684
Disciplines
Medicine and Health Sciences
PubMedID
18319076
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article