Abstract:
:The proximal albino deletions identify several functional regions on mouse Chromosome 7 critical for differentiation of mesoderm (mesd), development of the hypothalamus neuroendocrine lineage (nelg), and function of the liver (hsdr1). Using comparative mapping and genomic sequence analysis, we have identified four novel genes and Il16 in the mesd deletion interval. Two of the novel genes, mesdc1 and mesdc2, are located within the mesd critical region defined by BAC transgenic rescue. We have investigated the fetal role of genes located outside the mesd critical region using BAC transgenic complementation of the mesd early embryonic lethality. Using human radiation hybrid mapping and BAC contig construction, we have identified a conserved region of human chromosome 15 homologous to the mesd, nelg, and hsdr1 functional regions. Three human diseases cosegregate with microsatellite markers used in construction of the human BAC/YAC physical map, including autosomal dominant nocturnal frontal lobe epilepsy (ENFL2; also known as ADNFLE), a syndrome of mental retardation, spasticity, and tapetoretinal degeneration (MRST); and a pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA).
journal_name
Genomicsjournal_title
Genomicsauthors
Wines ME,Lee L,Katari MS,Zhang L,DeRossi C,Shi Y,Perkins S,Feldman M,McCombie WR,Holdener BCdoi
10.1006/geno.2000.6466subject
Has Abstractpub_date
2001-02-15 00:00:00pages
88-98issue
1eissn
0888-7543issn
1089-8646pii
S0888-7543(00)96466-8journal_volume
72pub_type
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