title: The juvenile alopecia mutation (jal) maps to mouse Chromosome 2, and is an allele of GATA binding protein 3 (Gata3).
abstract: BACKGROUND
  Mice homozygous for the juvenile alopecia mutation (jal) display patches of hair loss that appear as soon as hair develops in the neonatal period and persist throughout life. Although a report initially describing this mouse variant suggested that jal maps to mouse Chromosome 13, our preliminary mapping analysis did not support that claim.
  
  
  RESULTS
  To map jal to a particular mouse chromosome, we produced a 103-member intraspecific backcross panel that segregated for jal, and typed it for 93 PCR-scorable, microsatellite markers that are located throughout the mouse genome. Only markers from the centromeric tip of Chromosome 2 failed to segregate independently from jal, suggesting that jal resides in that region. To more precisely define jal's location, we characterized a second, 374-member backcross panel for the inheritance of five microsatellite markers from proximal Chromosome 2. This analysis restricted jal's position between D2Mit359 and D2Mit80, an interval that includes Il2ra (for interleukin 2 receptor, alpha chain), a gene that is known to be associated with alopecia areata in humans. Complementation testing with an engineered null allele of Il2ra, however, showed that jal is a mutation in a distinct gene. To further refine the location of jal, the 374-member panel was typed for a set of four single-nucleotide markers located between D2Mit359 and D2Mit80, identifying a 0.55 Mb interval where jal must lie. This span includes ten genes-only one of which, Gata3 (for GATA binding protein 3)-is known to be expressed in skin. Complementation testing between jal and a Gata3 null allele produced doubly heterozygous, phenotypically mutant offspring.
  
  
  CONCLUSIONS
  The results presented indicate that the jal mutation is a mutant allele of the Gata3 gene on mouse Chromosome 2. We therefore recommend that the jal designation be changed to Gata3jal, and suggest that this mouse variant may provide an animal model for at least some forms of focal alopecia that have their primary defect in the hair follicle and lack an inflammatory component.
authors: Biomolecular Sciences, Central Connecticut State University, 1615 Stanley Street, New Britain, CT 06053, USA.
authors: Francisco
authors: F
authors: Ramirez
authors: Aaron M
authors: AM
authors: Feliciano
authors: Elisabeth B
authors: EB
authors: Adkins
authors: Kevin M
authors: KM
authors: Child
authors: Legairre A
authors: LA
authors: Radden
authors: Alexis
authors: A
authors: Salas
authors: Nelson
authors: N
authors: Vila-Santana
authors: José M
authors: JM
authors: Horák
authors: Samantha R
authors: SR
authors: Hughes
authors: Damek V
authors: DV
authors: Spacek
authors: Thomas R
authors: TR
authors: King
mesh_terms: D000483:Alleles; D000505:Alopecia / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D017931:DNA Primers; D050990:GATA3 Transcription Factor / Q000235:genetics*; D005816:Genetic Complementation Test; D053645:Interleukin-2 Receptor alpha Subunit / Q000235:genetics; D051379:Mice; D008815:Mice, Inbred Strains; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D050990:GATA3 Transcription Factor; C494748:Gata3 protein, mouse; C508018:Il2ra protein, mouse; D053645:Interleukin-2 Receptor alpha Subunit
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