Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region.

Charcot-Marie-Tooth (CMT) disease is a progressive neuropathy of the peripheral nervous system, typically characterized by muscle weakness of the distal limbs. CMT is noted for its genetic heterogeneity, with four distinct loci already identified for the axonal form of the disease (CMT2). In 1996, linkage analysis of a single large family revealed the presence of a CMT2 locus on chromosome 7p14 (designatedCMT2D). Additional families have been linked subsequently to the same genomic region, including one with distal spinal muscular atrophy (dSMA) and one with mixed features of dSMA and CMT2; symptoms in both of these latter families closely resemble those seen in the original CMT2D family. There is thus a distinct possibility that CMT2 and dSMA encountered in these families reflect allelic heterogeneity at a single chromosome 7 locus. In the study reported here, we have performed more detailed linkage analysis of the original CMT2D family based on new knowledge of the physical locations of various genetic markers. The region containing the CMT2D gene, as defined by the original family, overlaps with those defined by at least two other families with CMT2 and/or dSMA symptoms. Both yeast artificial chromosome (YAC) and bacterial clone-based [bacterial artificial chromosome (BAC) and P1-derived artificial chromosome (PAC)] contig maps spanning ∼3.4 Mb have been assembled across the combinedCMT2D critical region, with the latter providing suitable clones for systematic sequencing of the interval. Preliminary analyses have already revealed at least 28 candidate genes and expressed-sequence tags (ESTs). The mapping information reported here in conjunction with the evolving sequence data should expedite the identification of the CMT2D/dSMA gene or genes.

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Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb

Genomics ◽

10.1016/s0888-7543(05)80365-9 ◽

1993 ◽

Vol 18 (3) ◽

pp. 627-635 ◽

Cited By ~ 23

Author(s):

S. Banfi ◽

M.-Y. Chung ◽

T.J. Kwiatkowski ◽

L.P.W. Ranum ◽

A.E. McCall ◽

...

Keyword(s):

Spinocerebellar Ataxia ◽

Critical Region ◽

Yeast Artificial Chromosome ◽

Artificial Chromosome ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 1 ◽

Yeast Artificial Chromosome Contig

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Construction of a Yeast Artificial Chromosome Contig Spanning the Pseudoautosomal Region and Isolation of 25 New Sequence-Tagged Sites

Genomics ◽

10.1006/geno.1993.1249 ◽

1993 ◽

Vol 16 (3) ◽

pp. 691-697 ◽

Cited By ~ 9

Author(s):

Rima Slim ◽

Denis Le Paslier ◽

Sylvie Compain ◽

Jacqueline Levilliers ◽

Pierre Ougen ◽

...

Keyword(s):

Yeast Artificial Chromosome ◽

Artificial Chromosome ◽

Pseudoautosomal Region ◽

Sequence Tagged Sites ◽

Yeast Artificial Chromosome Contig

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A 2.8 megabase YAC contig spanning D8S339, which is tightly linked to the Werner syndrome locus

Genome ◽

10.1139/g97-010 ◽

1997 ◽

Vol 40 (1) ◽

pp. 77-83

Author(s):

R. Bruskiewich ◽

M. Schertzer ◽

S. Wood

Keyword(s):

Human Chromosome ◽

Genetic Marker ◽

Yeast Artificial Chromosome ◽

Werner Syndrome ◽

Physical Map ◽

Artificial Chromosome ◽

Sequence Tagged Sites ◽

Yeast Artificial Chromosome Contig ◽

Yac Contig ◽

Chromosome 8P

A number of gene loci, including the locus for Werner syndrome (WRN), map to proximal human chromosome 8p near the genetic marker D8S339. In this report, we present a long range physical map of an approximately 2.8 megabase yeast artificial chromosome contig centred on D8S339. In this map, we localize the WRN-linked polymorphic sequence-tagged sites (STS) D8S339 and D8S1055, as well as a novel polymorphic STS, D8S2297. We also refine the positions of three known gene loci, GTF2E2, GSR, and PPP2CB, relative to the location of WRN within the map.Key words: WRN, GTF2E2, GSR, PPP2CB, physical map, human chromosome 8p.

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