Abstract
Maternal duplications of the imprinted 15q11-13 domain result in an estimated 1%-2% of autism-spectrum disorders, and linkage to autism has been identified within 15q12-13. UBE3A, the Angelman syndrome gene, has, to date, been the only maternally expressed, imprinted gene identified within this region, but mutations have not been found in autistic patients. Here we describe the characterization of ATP10C, a new human imprinted gene, which encodes a putative protein homologous to the mouse aminophospholipid-transporting ATPase Atp10c. ATP10C maps within 200 kb distal to UBE3A and, like UBE3A, also demonstrates imprinted, preferential maternal expression in human brain. The location and imprinted expression of ATP10C thus make it a candidate for chromosome 15-associated autism and suggest that it may contribute to the Angelman syndrome phenotype.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Angelman Syndrome / genetics*
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Autistic Disorder / genetics*
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Base Sequence
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Brain / metabolism
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Ca(2+) Mg(2+)-ATPase / genetics*
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Carrier Proteins / genetics*
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Chromosome Mapping
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Chromosomes, Human, Pair 15 / genetics*
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Female
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Genetic Linkage / genetics
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Genomic Imprinting / genetics*
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Humans
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Ligases / genetics*
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Membrane Proteins / genetics*
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Molecular Sequence Data
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Phospholipid Transfer Proteins*
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Ubiquitin-Protein Ligases
Substances
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Carrier Proteins
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Membrane Proteins
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Phospholipid Transfer Proteins
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UBE3A protein, human
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Ubiquitin-Protein Ligases
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Ca(2+) Mg(2+)-ATPase
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Ligases
Associated data
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GENBANK/AH010630
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GENBANK/AY029487
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GENBANK/AY029488
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GENBANK/AY029489
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GENBANK/AY029490
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GENBANK/AY029491
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GENBANK/AY029492
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GENBANK/AY029493
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GENBANK/AY029494
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GENBANK/AY029495
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GENBANK/AY029496
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GENBANK/AY029497
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GENBANK/AY029498
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GENBANK/AY029499
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GENBANK/AY029500
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GENBANK/AY029501
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GENBANK/AY029502
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GENBANK/AY029503
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GENBANK/AY029504
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OMIM/105830
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OMIM/209850