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PMID:15146186

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Citation

Krantz, ID, McCallum, J, DeScipio, C, Kaur, M, Gillis, LA, Yaeger, D, Jukofsky, L, Wasserman, N, Bottani, A, Morris, CA, Nowaczyk, MJ, Toriello, H, Bamshad, MJ, Carey, JC, Rappaport, E, Kawauchi, S, Lander, AD, Calof, AL, Li, HH, Devoto, M and Jackson, LG (2004) Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat. Genet. 36:631-5

Abstract

Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited multisystem developmental disorder characterized by growth and cognitive retardation; abnormalities of the upper limbs; gastroesophageal dysfunction; cardiac, ophthalmologic and genitourinary anomalies; hirsutism; and characteristic facial features. Genital anomalies, pyloric stenosis, congenital diaphragmatic hernias, cardiac septal defects, hearing loss and autistic and self-injurious tendencies also frequently occur. Prevalence is estimated to be as high as 1 in 10,000 (ref. 4). We carried out genome-wide linkage exclusion analysis in 12 families with CdLS and identified four candidate regions, of which chromosome 5p13.1 gave the highest multipoint lod score of 2.7. This information, together with the previous identification of a child with CdLS with a de novo t(5;13)(p13.1;q12.1) translocation, allowed delineation of a 1.1-Mb critical region on chromosome 5 for the gene mutated in CdLS. We identified mutations in one gene in this region, which we named NIPBL, in four sporadic and two familial cases of CdLS. We characterized the genomic structure of NIPBL and found that it is widely expressed in fetal and adult tissues. The fly homolog of NIPBL, Nipped-B, facilitates enhancer-promoter communication and regulates Notch signaling and other developmental pathways in Drosophila melanogaster.

Links

PubMed Online version:10.1038/ng1364

Keywords

Animals; Chromosomes, Human, Pair 5/genetics; DNA-Binding Proteins/genetics; De Lange Syndrome/embryology; De Lange Syndrome/genetics; De Lange Syndrome/pathology; Drosophila Proteins/genetics; Drosophila melanogaster/genetics; Female; Genes, Insect; Genetic Linkage; Humans; In Situ Hybridization, Fluorescence; Male; Mice; Molecular Sequence Data; Mutation; Species Specificity

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:NIPBL

involved_in

GO:0035136: forelimb morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0007605: sensory perception of sound

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0035261: external genitalia morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0042634: regulation of hair cycle

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0048589: developmental growth

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0050890: cognition

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

HUMAN:NIPBL

involved_in

GO:0060325: face morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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