Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter
- Univ. of Geneva Medical School (Switzerland)
- Cantonal Hospital, Geneva (Switzerland); and others
Exon trapping was used to identify portions of genes from cosmid DNA of a human chromosome 21-specific library LL21NC02-Q. More than 650 potential exons have been cloned and characterized to date. Among these, 3 trapped {open_quotes}exons{close_quotes} showed strong homology to different regions of the cDNA for the mouse pericentrin (Pcnt) gene, indicating that these 3 exons are portions of a human homolog of the mouse pericentrin gene. With PCR amplification, Southern blot analysis, and FISH, we have mapped this presumed human pericentrin gene (PCNT) to the long arm of chromosome 21 between marker PFKL and 21qter. Pericentrin is a conserved protein component of the filamentous matrix of the centrosome involved in the initial establishment of the organized microtubule array. No candidate hereditary disorder for pericentrin deficiency/abnormality has yet been mapped in the most distal region of 21q; in addition the role of triplication of the pericentrin gene in the pathophysiology or etiology of trisomy 21 is currently unknown. 16 refs., 3 figs.
- OSTI ID:
- 466005
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 3 Vol. 35; ISSN GNMCEP; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
BIOLOGICAL MARKERS
CHROMOSOMAL ABERRATIONS
COSMIDS
DNA SEQUENCING
DNA-CLONING
DOWNS SYNDROME
ETIOLOGY
FLUORESCENCE
GENE MUTATIONS
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 21
IN-SITU HYBRIDIZATION
MAN
MENTAL DISORDERS
PHENOTYPE
POLYMERASE CHAIN REACTION
STRUCTURE-ACTIVITY RELATIONSHIPS
TRANSCRIPTION