Disease relevance of ATP10A

• A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome [1].

High impact information on ATP10A

• ATP10C maps within 200 kb distal to UBE3A and, like UBE3A, also demonstrates imprinted, preferential maternal expression in human brain [2].
• One haplotype within ATP10C displayed suggestive evidence for preferential transmission [3].
• Two SNPs within ATP10C demonstrated evidence for preferential allelic transmission to affected offspring [3].
• Recently, its human ortholog, ATP10A, was identified as the second imprinted gene with maternal expression in the human chromosome 15q11-q13 imprinted domain [4].
• Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting [4].

Biological context of ATP10A

• 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 [2].
• The second gene cluster maps to the telomeric part of the imprinted domain and contains two genes (UBE3A and ATP10C), which in some tissues are preferentially expressed from the maternal chromosome [5].
• In an effort to find the genes responsible for autism in this chromosomal region, 1.5 kb of the 5' flanking region, as well as the coding and splicing regions of ATP10C, were screened for sequence variants [6].

References