NDLI: Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome.

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Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome.

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Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Kwiatkowski, D. J. Aklog, L. Ledbetter, D. H. Morton, C. C.
Description	Author Affiliation: Kwiatkowski DJ ( Hematology-Oncology Unit, Massachusetts General Hospital, Charlestown 02129.)
Abstract	Profilin is a conserved actin-monomer-binding protein which is found in all eukaryotes, including yeast. Although amino acid sequence analysis and RNase protection analysis suggest a single profilin isoform in mammalian cells, Southern blot analysis of human and somatic cell hybrid DNA indicates several loci in the human genome which hybridize with the profilin cDNA. We therefore isolated human genomic clones to analyze these genetic loci in detail. Only one of the cloned loci has typical features of a functional gene, including upstream transcriptional elements and typical exon-intron structure. Four other isolated loci are all diverged, intronless pseudogenes and are likely to be nonfunctional. The functional gene was localized to human chromosome band 17p13 by analysis of somatic cell hybrids and by in situ chromosomal localization. The Miller-Dieker syndrome (MDS), a rare congenital disorder manifested by characteristic facial abnormalities and lissencephaly (smooth brain), is associated with microdeletions of the distal 17p region. RFLP analysis of a patient with MDS, and analysis of somatic cell hybrids containing partially deleted chromosomes 17 from patients with MDS, using the profilin gene probe, indicate that profilin is localized to chromosome subband 17p13.3. These results also indicate that profilin is the first identified cloned gene which is part of the genetic material deleted in some patients with MDS but that other patients have smaller deletions not affecting the profilin locus. Thus, single allelic deletion of the profilin locus may contribute to the clinical phenotype of the MDS in some patients but does not play a major role in the essential phenotype.
ISSN	00029297
e-ISSN	15376605
Journal	The American Journal of Human Genetics
Issue Number	3
Volume Number	46
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	1990-03-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Brain Abnormalities Chromosome Deletion Chromosomes, Human, Pair 17 Contractile Proteins Facial Asymmetry Genetics Microfilament Proteins Amino Acid Sequence Animals Chromosome Banding Hybrid Cells Karyotyping Molecular Sequence Data Polymorphism, Restriction Fragment Length Profilins Restriction Mapping Syndrome Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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