Gene Mapping and the Human Genome Mapping Project

http://dx.doi.org/10.1016/0955-0674(90)90131-

Structure of the human G gamma-A gamma-delta-beta-globin gene locus

We have constructed a physical map of the human G gamma-, A gamma-, delta-, and beta-globin genes. The previously described maps of the fetal and adult beta-like globin genes have been linked to one another by identification of a DNA fragment, generated by BamHI, that contains part of each of the A gamma- and delta-globin genes. The map obtained, which spans more than 40 kilobases, shows the following intergene distances: between G gamma and A gamma, 3500 base pairs; between A gamma and delta, 13,500 base pairs; and between delta and beta, 5500 base pairs. All genes are transcribed from the same DNA strand

Molecular organisation of an A mating type factor of the basidiomycete fungus Coprinus-cinereus

The Aα3 and Aβ3 genes, which together constitute the A42 mating type factor of Coprinus cinereus, were isolated from a cosmid genomic library by walking 50 kb, a map distance of 0.5 units, from the closely linked metabolic gene pab-1. Cosmid clones having A gene function were identified by transformation into compatible A6 (α2β2) and A5 (α1β1) host cells where either α3 or β3 was expected to elicit the A factor — regulated development of unfused clamp cells. DNAs were digested with various enzymes before transformation in order to identify the smallest fragments containing an active α3 or β3 gene. Two non-overlapping fragments were identified as containing the α3 and β3 genes respectively. Southern hybridisation analyses showed that these two cloned genes had no detectable sequence homology, and that there was little or no hybridisation to the α and β gene alleles that constitute the A5 and A6 factors. α3 and β3 were shown to be less than 2.0 kb apart and embedded in a DNA sequence extending over 9.0 kb which was unique to our A42 strain and may contain a third A factor gen

The structure of the human β-globin gene in β-thalassaemia

Twenty-one cases of β⁰- and β⁺-thalassaemia have been analysed by restriction endonuclease mapping. In most cases no deletion in the regions surrounding the β- and δ-globin genes could be detected. However, in a single Asian case of β⁰-thalassaemia, homozygous clinically, one of the homologous chromosomes contained a β-globin gene with a deletion of 600 base pairs of DNA and comprising most or all of the 3' end of the structural gene including the EcoRI restriction site within the β-globin coding sequence

The structure of the human β-globin gene in β-thalassaemia

Twenty-one cases of β⁰- and β⁺-thalassaemia have been analysed by restriction endonuclease mapping. In most cases no deletion in the regions surrounding the β- and δ-globin genes could be detected. However, in a single Asian case of β⁰-thalassaemia, homozygous clinically, one of the homologous chromosomes contained a β-globin gene with a deletion of 600 base pairs of DNA and comprising most or all of the 3' end of the structural gene including the EcoRI restriction site within the β-globin coding sequence

Disruption of a Novel Imprinted Zinc-Finger Gene, ZNF215, in Beckwith-Wiedemann Syndrome

The genetics of Beckwith-Wiedemann syndrome (BWS) is complex and is thought to involve multiple genes. It is known that three regions on chromosome 11p15 (BWSCR1, BWSCR2, and BWSCR3) may play a role in the development of BWS. BWSCR2 is defined by two BWS breakpoints. Here we describe the cloning and sequence analysis of 73 kb containing BWSCR2. Within this region, we detected a novel zinc-finger gene, ZNF215. We show that two of its five alternatively spliced transcripts are disrupted by both BWSCR2 breakpoints. Parts of the 3′ end of these splice forms are transcribed from the antisense strand of a second zinc-finger gene, ZNF214. We show that ZNF215 is imprinted in a tissue-specific manner