RESUMEN
Folate sensitive fragile site on chromosome 2q13 was detected in a female proband with mild hypertrichosis, negativism, speech disorder, and severe mental retardation. The same chromosomal aberration was also detected in her mother with normal phenotype. Spontaneous expression of fragile site on 2q13 was also observed.
Asunto(s)
Fragilidad Cromosómica , Cromosomas Humanos Par 2/fisiología , Discapacidad Intelectual/genética , Adulto , Sitios Frágiles del Cromosoma , Femenino , Humanos , CariotipificaciónAsunto(s)
Proteínas Serina-Treonina Quinasas/genética , Adulto , Aneuploidia , Deleción Cromosómica , Cromosomas Humanos Par 18/genética , Cromosomas Humanos Par 18/fisiología , Cromosomas Humanos Par 2/genética , Cromosomas Humanos Par 2/fisiología , Familia , Femenino , Humanos , Lactante , Isocromosomas/genética , Isocromosomas/fisiología , Cariotipificación , Masculino , Proteínas Serina-Treonina Quinasas/fisiologíaRESUMEN
Human NP220 (hNP220) is a novel DNA-binding nuclear protein, which has an arginine/serine-rich motif and polypyrimidine tract-binding motif, and NP220s and matrin 3 are thought to form a novel family of nuclear proteins. We have determined a chromosomal localization of the cDNA encoding human NP220 to 2p13.1-p13.2 by using fluorescence in situ hybridization. Human matrin 3 cDNA was mapped to chromosomes 1p13.1-p21.1 and 5q31.3, demonstrating that these novel nuclear proteins with similar functions are on different chromosomes.
Asunto(s)
Mapeo Cromosómico , Cromosomas Humanos Par 2/química , Proteínas de Unión al ADN/genética , Proteínas Nucleares/genética , Bandeo Cromosómico , Cromosomas Humanos Par 2/fisiología , Sondas de ADN/química , ADN Complementario/química , Proteínas de Unión al ADN/química , Humanos , Procesamiento de Imagen Asistido por Computador , Hibridación Fluorescente in Situ , Proteínas Nucleares/química , Proteínas de Unión al ARNRESUMEN
Various portions of the region surrounding the site where two ancestral chromosomes fused to form human chromosome 2 are duplicated elsewhere in the human genome, primarily in subtelomeric and pericentromeric locations. At least 24 potentially functional genes and 16 pseudogenes reside in the 614-kb of sequence surrounding the fusion site and paralogous segments on other chromosomes. By comparing the sequences of genomic copies and transcripts, we show that at least 18 of the genes in these paralogous regions are transcriptionally active. Among these genes are new members of the cobalamin synthetase W domain (CBWD) and forkhead domain FOXD4 gene families. Copies of RPL23A and SNRPA1 on chromosome 2 are retrotransposed-processed pseudogenes that were included in segmental duplications; we find 53 RPL23A pseudogenes in the human genome and map the functional copy of SNRPA1 to 15qter. The draft sequence of the human genome also provides new information on the location and intron-exon structure of functional copies of other 2q-fusion genes (PGM5, retina-specific F379, helicase CHLR1, and acrosin). This study illustrates that the duplication and rearrangement of subtelomeric and pericentromeric regions have functional relevance to human biology; these processes can change gene dosage and/or generate genes with new functions.