Comparative sequence analysis of imprinted genes between human and mouse to reveal imprinting signatures

Zhining Wang, Hongtao Fan, Howard H. Yang, Ying Hu, Kenneth Buetow, Maxwell P. Lee

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

We performed a comparative genomic sequence analysis between human and mouse for 24 imprinted genes on human chromosomes 1, 6, 7, 11, 13, 14, 15, 18, 19, and 20. The MEME program was used to search for motifs within conserved sequences among the imprinted genes and we then used the MAST program to analyze for the presence or absence of motifs in the imprinted genes and 128 nonimprinted genes. Our analysis identified 15 motifs that were significantly enriched in the imprinted genes. We generated a logistic regression model by combining multiple motifs as input variables and the 24 imprinted genes and the 128 nonimprinted genes as a training set. The accuracy, sensitivity, and specificity of our model were 98, 92, and 99%, respectively. The model was further validated by an open test on 12 additional imprinted genes. The motifs identified in this study are novel imprinting signatures, which should improve our understanding of genomic imprinting and the role of genomic imprinting in human diseases.

Original languageEnglish (US)
Pages (from-to)395-401
Number of pages7
JournalGenomics
Volume83
Issue number3
DOIs
StatePublished - Mar 2004
Externally publishedYes

Fingerprint

Sequence Analysis
Genes
Genomic Imprinting
Logistic Models
Chromosomes, Human, Pair 6
Conserved Sequence
Chromosomes, Human, Pair 1
Human Chromosomes
Sensitivity and Specificity

Keywords

  • Comparative genomics
  • Imprinting
  • Logistic regression model
  • Motif

ASJC Scopus subject areas

  • Genetics

Cite this

Comparative sequence analysis of imprinted genes between human and mouse to reveal imprinting signatures. / Wang, Zhining; Fan, Hongtao; Yang, Howard H.; Hu, Ying; Buetow, Kenneth; Lee, Maxwell P.

In: Genomics, Vol. 83, No. 3, 03.2004, p. 395-401.

Research output: Contribution to journalArticle

Wang, Zhining ; Fan, Hongtao ; Yang, Howard H. ; Hu, Ying ; Buetow, Kenneth ; Lee, Maxwell P. / Comparative sequence analysis of imprinted genes between human and mouse to reveal imprinting signatures. In: Genomics. 2004 ; Vol. 83, No. 3. pp. 395-401.
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