RESUMEN
We have constructed a 2.5-Mb physical and transcription map that spans the human 6p21.2-6p21.3 region and includes the centromeric end of the MHC, using a combination of techniques. In total 88 transcription units including exons, cDNAs, and cDNA contigs were characterized and 60 were confidently positioned on the physical map. These include a number of genes encoding nuclear and splicing factors (Ndr kinase, HSU09564, HSRP20); cell cycle, DNA packaging, and apoptosis related [p21, HMGI(Y), BAK]; immune response (CSBP, SAPK4); transcription activators and zinc finger-containing genes (TEF-5, ZNF76); embryogenesis related (Csa-19); cell signaling (DIPP); structural (HSET), and other genes (TULP1, HSPRARD, DEF-6, EO6811, cyclophilin), as well as a number of RP genes and pseudogenes (RPS10, RPS12-like, RPL12-like, RPL35-like). Furthermore, several novel genes (a Br140-like, a G2S-like, a FBN2-like, a ZNF-like, and B1/KIAA0229) have been identified, as well as cDNAs and cDNA contigs. The detailed map of the gene content of this chromosomal segment provides a number of candidate genes, which may be involved in several biological processes that have been associated with this region, such as spermatogenesis, development, embryogenesis, and neoplasia. The data provide useful tools for synteny studies between mice and humans, for genome structure analysis, gene density comparisons, and studies of nucleotide composition, of different isochores and Giemsa light and Giemsa dark bands.
Asunto(s)
Centrómero/genética , Cromosomas Humanos Par 6/genética , Péptidos y Proteínas de Señalización Intracelular , Complejo Mayor de Histocompatibilidad/genética , Proteínas Asociadas a Microtúbulos , Mapeo Físico de Cromosoma/métodos , Secuencia de Aminoácidos , Composición de Base , Centrómero/química , Cromosomas Humanos Par 6/química , ADN Complementario/análisis , Proteínas de Unión al ADN/genética , Exones/genética , Etiquetas de Secuencia Expresada , Biblioteca de Genes , Humanos , Factores de Transcripción de Tipo Kruppel , Datos de Secuencia Molecular , Proteínas Nucleares/genética , Análisis de Secuencia de ADN/métodos , Transactivadores/genética , Células U937 , Ubiquitina-Proteína Ligasas , Región del Complejo T del GenomaRESUMEN
We report the precise mapping and characterization of ZIRTL (zinc-iron regulated transporter-like) gene, the first mammalian member of an extensive family of divalent metal ion transporters, comprising IRT1 and ZIP1, ZIP2, ZIP3, and ZIP4 in plants and ZRT1 and ZRT2 in yeast. The human gene maps at the telomeric end of the epidermal differentiation complex (EDC), within chromosomal band 1q21, while the mouse gene maps within the mouse EDC, on mouse chromosome 3, between S100A9 and S100A13. The structure of the human gene has been determined, and message was detected in most adult and fetal tissues including the epidermis. The mouse gene is developmentally regulated and found expressed in fetal and adult suprabasal epidermis, osteoblasts, small intestine, and salivary gland.
Asunto(s)
Proteínas Portadoras/aislamiento & purificación , Proteínas de Transporte de Catión , Células Epidérmicas , Epidermis/metabolismo , Familia de Multigenes , Homología de Secuencia de Aminoácido , Adulto , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Northern Blotting , Proteínas Portadoras/biosíntesis , Proteínas Portadoras/química , Proteínas Portadoras/genética , Diferenciación Celular/genética , Cromosomas Humanos Par 1/genética , Clonación Molecular , ADN Complementario/química , ADN Complementario/aislamiento & purificación , Exones , Regulación del Desarrollo de la Expresión Génica , Humanos , Hibridación in Situ , Intrones , Hierro/metabolismo , Ratones , Datos de Secuencia Molecular , Especificidad de Órganos/genética , Zinc/metabolismoRESUMEN
Chromosomal band 1q21 contains a number of genes, constituting the Epidermal differentiation complex (EDC), most of which are involved in the process of terminal differentiation of the human epidermis and implicated in several disorders of keratinization and cancer. The physical map of 1q21 has been refined by generating 400 YAC derivatives. These products have allowed us to localize EDC genes and additional ESTs precisely. The transcriptional map of the region has been extended by positioning 20 ESTs reported to map between D1S442 and D1S305. Eight of the ESTs are localized in two distinct clusters, confirmed by isolating PACs and chromosome 1-specific cosmids. Two of the ESTs correspond to the genes for YL1 and selenium-binding protein, both of which have potential tumor suppressor activity. Through the use of fragmented YACs and bacterial clones, the order of markers and ESTs in the region has been established as follows: cen-A002O32-Bda44g03-Cda10d12-Bdab5d06, H60056, A005K39-D1S442-WI5663-WI7969-Cx40-Cda0g e12-Cda0kh05-A002D26- A008S07-Cda0ff08-D1S498-S100A10-WI7815( THH)-WI7217(FLG)-D1S1664-INV-SPRR2A- LOR-A001X21-D1S305-tel.