Comparative mapping of canine and human proximal Xq and genetic analysis of canine X-linked severe combined immunodeficiency
- Univ. of Pennsylvania School of Medicine and Children`s Hospital of Philadelphia, PA (United States); and others
Parallel genetic analysis of animal and human genetic diseases can facilitate the identification and characterization of the causative gene defects. For example, canine X-linked severe combined immunodeficiency (SCID) is characterized by clinical, pathological, and immunological manifestations similar to the most common form of human SCID. To derive a canine syntenic map including genes that in humans are located in proximal Xq, near human X-linked SCID, poly (TG) polymorphisms were identified at the canine phosphoglycerate kinase (PGK) and choroideremia (CHM) loci. These plus a polymorphic poly (CAG) sequence in exon 1 of the canine androgen receptor gene (AR) were used to genotype members of the colony informative for X-linked SCID. No recombinations among SCIDX1, AR, PGK, or CHM were observed. Fluorescence in situ hybridization localized PGK and CHM to proximal Xq in the dog, in the same chromosomal location occupied by the human genes. Somatic cell hybrid analysis and methylation differences at AR demonstrated that female dogs carrying X-linked SCID have the same lymphocyte-limited skewed X-chromosome inactivation patterns as human carriers. These genetic and phenotypic findings provide evidence that mutations in the same gene, now identified as the {gamma} chain of the IL-2 receptor, cause canine and human X-linked SCID. This approach is an efficient method for comparative gene mapping and disease identification. 35 refs., 4 figs., 1 tab.
- OSTI ID:
- 186054
- Journal Information:
- Genomics, Journal Name: Genomics Journal Issue: 1 Vol. 23; ISSN 0888-7543; ISSN GNMCEP
- Country of Publication:
- United States
- Language:
- English
Similar Records
IL-2R{gamma} gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease
Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13
Two unique mutations in the interleukin-2 receptor gamma chain gene (IL2RG) cause X-linked severe combined immunodeficiency arising in opposite parental germ lines
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·
Thu Sep 01 00:00:00 EDT 1994
· Genomics
·
OSTI ID:186055
Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13
Journal Article
·
Sat Oct 31 23:00:00 EST 1987
· Proc. Natl. Acad. Sci. U.S.A.; (United States)
·
OSTI ID:6771021
Two unique mutations in the interleukin-2 receptor gamma chain gene (IL2RG) cause X-linked severe combined immunodeficiency arising in opposite parental germ lines
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Thu Sep 01 00:00:00 EDT 1994
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Related Subjects
55 BIOLOGY AND MEDICINE
BASIC STUDIES
ANDROGENS
BIOLOGICAL MODELS
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
DOGS
EXONS
FLUORESCENCE
GENE MUTATIONS
GENE RECOMBINATION
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN X CHROMOSOME
HYBRIDIZATION
IMMUNE SYSTEM DISEASES
METHYLATION
NUCLEOTIDES
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
RECEPTORS
SOMATIC CELLS
STATISTICS
BASIC STUDIES
ANDROGENS
BIOLOGICAL MODELS
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
DOGS
EXONS
FLUORESCENCE
GENE MUTATIONS
GENE RECOMBINATION
GENES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN X CHROMOSOME
HYBRIDIZATION
IMMUNE SYSTEM DISEASES
METHYLATION
NUCLEOTIDES
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
RECEPTORS
SOMATIC CELLS
STATISTICS