Identification of mesoderm development (mesd) candidate genes by comparative mapping and genome sequence analysis.

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

Genomics

journal_title

Genomics

authors

Wines ME,Lee L,Katari MS,Zhang L,DeRossi C,Shi Y,Perkins S,Feldman M,McCombie WR,Holdener BC

doi

10.1006/geno.2000.6466

subject

Has Abstract

pub_date

2001-02-15 00:00:00

pages

88-98

issue

1

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(00)96466-8

journal_volume

72

pub_type

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