@entity3384 with or without @entity2419 is a common @entity600 affecting 1 in every 700 live births. Several genetic loci are believed to be involved in the pathogenesis of @entity8468 clefting. We identified a pericentric inversion of chromosome 4, inv(4)(p13q21) that segregates with @entity3384 in a two-generation family. By using a combination of fluorescence in situ hybridization, @entity375 artificial chromosome, bacterial artificial chromosome contig mapping, and database searching we mapped and sequenced the inversion breakpoint region. The pericentric inversion disrupts a gene ( @entity13264 ) on chromosome 4q21 that codes for a novel @entity8595 desaturase enzyme. The 3.0 kb @entity1 @entity13264 cDNA spans approximately 170 kb and is composed of five exons of @entity13264 . The inversion breakpoint is located in the second exon. The 3.0 kb mRNA is expressed at high level in fetal brain; a lower expression level was found in fetal kidney. No expression of @entity13264 was detected in fetal lung or liver or in adult tissues. The five exons code for a protein of 330 @entity1522 , with a predicted molecular weight of 37.5 kDa. The protein is highly similar to @entity8595 desaturases from @entity238 to @entity1 . The catalytically essential @entity3793 clusters and the potential transmembrane domains are well conserved.

Identification and characterization of a novel gene disrupted by a pericentric inversion inv(4)(p13.1q21.1) in a family with XXXX .

@entity1 :: ('9606', 'Species') :: ['Homo sapiens', 'human'] @entity1522 :: ('CHEBI:33709', 'Chemical') :: ['amino acids'] @entity3793 :: ('CHEBI:27570', 'Chemical') :: ['histidine'] @entity2419 :: ('MESH:D002972', 'Disease') :: ['cleft palate'] @entity8468 :: ('OMIM:600791', 'Disease') :: ['syndromic and non-syndromic'] @entity13264 :: ('79966', 'Gene') :: ['ACOD4'] @entity600 :: ('MESH:D000014', 'Disease') :: ['birth defect'] @entity8595 :: ('MESH:D000214', 'Chemical') :: ['acyl-CoA'] @entity375 :: ('4932', 'Species') :: ['yeast'] @entity3384 :: ('MESH:D002971', 'Disease') :: ['cleft lip', 'Cleft lip'] @entity238 :: ('7227', 'Species') :: ['Drosophila melanogaster']
@entity3384 :: (MESH:D002971,Disease) :: ['cleft lip']
