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

Journal Article · Thu Jul 15 00:00:00 EDT 1993 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.90.14.6801· OSTI ID:5957659

Kleyn, P W; Wang, C H; Vitale, E; Pan, J; Ross, B M; Grunn, A; Palmer, D A; Warburton, D; Brzustowicz, L M; Gilliam, T G ^[1]; Lien, L L; Kunkel, L M ^[2]

---

1. New York State Psychiatric Institute, NY (United States)
2. Howard Hughes Medical Institute, Boston, MA (United States)

The childhood spinal muscular atrophies (SMAs) are the most common, serious neuromuscular disorders of childhood second to Duchenne muscular dystrophy. A single locus for these disorders has been mapped by recombination events to a region of 0.7 centimorgan (range, 0.1-2.1 centimorgans) between loci D5S435 and MAP1B on chromosome 5q11.2-13.3. By using PCR amplification to screen yeast artificial chromosome (YAC) DNA pools and the PCR-vectorette method to amplify YAC ends, a YAC contig was constructed across the disease gene region. Nine walk steps identified 32 YACs, including a minimum of seven overlapping YAC clones (average size, 460 kb) that span the SMA region. The contig is characterized by a collection of 30 YAC-end sequence tag sites together with seven genetic markers. The entire YAC contig spans a minimum of 3.2 Mb; the SMA locus is confined to roughly half of this region. Microsatellite markers generated along the YAC contig segregate with the SMA locus in all families where the flanking markers (D5S435 and MAP1B) recombine. Construction of a YAC contig across the disease gene region is an essential step in isolation of the SMA-encoding gene. 26 refs., 3 figs., 1 tab.

• OSTI ID: 5957659
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Vol. 90:14; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN CHROMOSOME 5
GENETIC MAPPING
MUSCLES
CONGENITAL DISEASES
SPINAL CORD
ATROPHY
CHROMOSOMES
NERVOUS SYSTEM DISEASES
YEASTS
CENTRAL NERVOUS SYSTEM
DISEASES
EUMYCOTA
FUNGI
HUMAN CHROMOSOMES
MAPPING
MICROORGANISMS
NERVOUS SYSTEM
PATHOLOGICAL CHANGES
PLANTS
550400* - Genetics