Pulsed-field map of Xq13 in the region of the human X inactivation center. 1993

R G Lafrenière, and H F Willard
Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106.

We have used human/mouse hybrid cell lines to derive a pulsed-field map of the Xq13 region of the human X chromosome, in the vicinity of the X inactivation center (XIC). We have mapped nine loci within two separate clusters (I and II). Cluster I contains three loci (DXS227, XIST, and DXS128) linked within 1700 kb. This cluster also includes the breakpoint of a translocated X;14 chromosome used to define the proximal border of the XIC region. Cluster II covers an additional 1800 kb and physically links six loci (DXS56, DXS171, DXS325, DXS347, DXS356, and DXS441) located between the XIC and the genes for Menkes disease (MNK) and PGK1. Maps of cluster I loci derived from active (Xa) or inactive (Xi) X chromosomes differed, presumably due to methylation differences between the Xa and Xi. This map provides a basis for examining the organization of the Xq13.2-q13.3 region, in and around the XIC, and will assist in the further cloning of expressed sequences from this region.

UI MeSH Term Description Entries
D008040 Genetic Linkage The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002883 Chromosomes, Human, Pair 14 A specific pair of GROUP D CHROMOSOMES of the human chromosome classification. Chromosome 14
D005260 Female Females
D005810 Multigene Family A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed) Gene Clusters,Genes, Reiterated,Cluster, Gene,Clusters, Gene,Families, Multigene,Family, Multigene,Gene Cluster,Gene, Reiterated,Multigene Families,Reiterated Gene,Reiterated Genes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006822 Hybrid Cells Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION. Somatic Cell Hybrids,Cell Hybrid, Somatic,Cell Hybrids, Somatic,Cell, Hybrid,Cells, Hybrid,Hybrid Cell,Hybrid, Somatic Cell,Hybrids, Somatic Cell,Somatic Cell Hybrid
D000818 Animals Unicellular or multicellular, heterotrophic organisms, that have sensation and the power of voluntary movement. Under the older five kingdom paradigm, Animalia was one of the kingdoms. Under the modern three domain model, Animalia represents one of the many groups in the domain EUKARYOTA. Animal,Metazoa,Animalia
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D014960 X Chromosome The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species. Chromosome, X,Chromosomes, X,X Chromosomes
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