Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5.
BACKGROUND
Genomic imprinting is an epigenetic chromosomal modification in the gametes or zygotes that results in a non-random monoallelic expression of specific autosomal genes depending upon their parent of origin. Approximately 44 human genes have been reported to be imprinted. A majority of them are clustered, including some on chromosome segment 11p15.5. We report here the imprinting status of the SLC22A1LS gene from the human chromosome segment 11p15.5


RESULTS
In order to test for allele specific expression patterns, PCR primer sets from the SLC22A1LS gene were used to look for heterozygosity in DNA samples from 17 spontaneous abortuses using PCR-SSCP and DNA sequence analyses. cDNA samples from different tissues of spontaneous abortuses showing heterozygosity were subjected to PCR-SSCP analysis to determine the allele specific expression pattern. PCR-SSCP analysis revealed heterozygosity in two of the 17 abortuses examined. DNA sequence analysis showed that the heterozygosity is caused by a G>A change at nucleotide position 473 (c.473G>A) in exon 4 of the SLC22A1LS gene. PCR-SSCP analysis suggested that this gene is paternally imprinted in five fetal tissues examined.


CONCLUSIONS
This study reports the imprinting status of the SLC22A1LS gene for the first time. The results suggest imprinting of the paternal allele of this gene in five fetal tissues: brain, liver, placenta, kidneys and lungs.
Bajaj
Vineeta
V
Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India. vineeta@mrdg.iisc.ernet.in
Markandaya
Manjunath
M
Krishna
Lingegowda
L
Kumar
Arun
A
D000022:Abortion, Spontaneous; D000483:Alleles; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005333:Fetus / Q000378:metabolism; D018507:Gene Expression Regulation, Developmental; D006580:Genetic Carrier Screening; D018392:Genomic Imprinting; D006579:Heterozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational
D008565:Membrane Proteins; C406488:SLC22A18AS protein, human; D004247:DNA