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PMID:10594239

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Citation

Frank, D, Mendelsohn, CL, Ciccone, E, Svensson, K, Ohlsson, R and Tycko, B (1999) A novel pleckstrin homology-related gene family defined by Ipl/Tssc3, TDAG51, and Tih1: tissue-specific expression, chromosomal location, and parental imprinting. Mamm. Genome 10:1150-9

Abstract

We previously described a gene, Ipl (Tssc3), that is expressed selectively from the maternal allele in placenta, yolk sac, and fetal liver and that maps within the imprinted domain of mouse distal Chromosome (Chr) 7/human Chr 11p15.5 (Hum Mol Genet 6, 2021, 1997). Ipl is similar to TDAG51, a gene that is involved in FAS/CD95 expression. Here we describe another gene, Tih1 (TDAG/Ipl homologue 1), with equivalent sequence similarity to Ipl. Structural prediction indicates that the products of these three genes share a central motif resembling a pleckstrin-homology (PH) domain, and TIH1 protein has weak sequence similarity to the PH-domain protein SEC7/CYTOHESIN. Like Ipl, Tih1 is a small gene with a single small intron. Tih1 maps to distal mouse Chr 1 and human Chr 1q31, chromosomal regions that have not shown evidence for imprinting and, in contrast to Ipl, Tih1 is expressed equally from both parental alleles. Ipl, Tih1, and TDAG51 have overlapping but distinct patterns of expression. Tih1 and TDAG51 are expressed in multiple fetal and adult tissues. In contrast, during early mouse development Ipl mRNA and protein are highly specific for two tissues involved in maternal/fetal exchange: visceral endoderm of the yolk sac and labyrinthine trophoblast of the placenta. These findings highlight the dominance of chromosomal context over gene structure in some examples of parental imprinting and extend previous evidence for placenta-specific expression of imprinted genes. The data also define a new subfamily of PH domain genes.

Links

PubMed

Keywords

Amino Acid Motifs; Amino Acid Sequence; Animals; Base Sequence; Blood Proteins/chemistry; Blood Proteins/genetics; Chromosomes, Human, Pair 1/genetics; Codon, Initiator/genetics; Embryo, Mammalian/cytology; Embryo, Mammalian/metabolism; Gene Expression Regulation, Developmental; Genomic Imprinting/genetics; Humans; Introns/genetics; Mice; Molecular Sequence Data; Multigene Family/genetics; Nuclear Proteins; Organ Specificity; Phosphoproteins; Physical Chromosome Mapping; Protein Conformation; Proteins/chemistry; Proteins/genetics; Proteins/metabolism; RNA, Messenger/analysis; RNA, Messenger/genetics; Sequence Homology, Amino Acid; Transcription Factors/chemistry; Transcription Factors/genetics

Significance

Annotations

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

HUMAN:PHLA3

involved_in

GO:0009653: anatomical structure morphogenesis

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

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