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Constructing an initial map of transmission distortion based on high density hapmap snps across the human autosomes
Deng, Libin2,3; Zhang, Dake3,4; Richards, Elliott5; Tang, Xiaoli2; Fang, Jin1; Long, Fei1; Wang, Yan1
刊名Journal of genetics and genomics
2009-12-01
卷号36期号:12页码:703-709
关键词Transmission distortion Hapmap project Gene ontology
ISSN号1673-8527
DOI10.1016/s1673-8527(08)60163-0
通讯作者Wang, yan(wyjxmc@sina.com)
英文摘要Transmission distortion (td) is a significant departure from mendelian predictions of genes or chromosomes to offspring. while many biological processes have been implicated, there is still much to be understood about td in humans. here we present our findings from a genome-wide scan for evidence of td using haplotype data of 60 trio families from the international hapmap project. fisher's exact test was applied to assess the extent of td in 629,958 snps across the autosomes. based on the empirical distribution of p(fisher) and further permutation tests, we identified 1,205 outlier loci and 224 candidate genes with td. using the panther gene ontology database, we found 19 categories of biological processes with an enrichment of candidate genes. in particular, the "protein phosphorylation" category contained the largest number of candidates in both hapmap samples. further analysis uncovered an intriguing non-synonymous change in ppp1r12b, a gene related to protein phosphorylation, which appears to influence the allele transmission from male parents in the yri (yoruba from ibadan, nigeria) population. our findings also indicate an ethnicity-related property of td signatures in hapmap samples and provide new clues for our understanding of td in humans.
WOS关键词NATURAL-SELECTION ; HUMAN GENOME ; PROTEIN ; PHOSPHORYLATION ; SIGNATURES ; GENE
WOS研究方向Biochemistry & Molecular Biology ; Genetics & Heredity
WOS类目Biochemistry & Molecular Biology ; Genetics & Heredity
语种英语
出版者SCIENCE CHINA PRESS
WOS记录号WOS:000273158400002
内容类型期刊论文
URI标识http://www.corc.org.cn/handle/1471x/2404851
专题中国科学院大学
通讯作者Wang, Yan
作者单位1.Nanchang Univ, Lab Ctr Med, Nanchang 330006, Peoples R China
2.Nanchang Univ, Fac Basic Med Sci, Nanchang 330006, Peoples R China
3.Chinese Acad Sci, Beijing Inst Genom, Beijing 100029, Peoples R China
4.Chinese Acad Sci, Grad Sch, Beijing 100049, Peoples R China
5.Brigham Young Univ, Coll Life Sci, Dept Biol, Provo, UT 84602 USA
推荐引用方式
GB/T 7714
Deng, Libin,Zhang, Dake,Richards, Elliott,et al. Constructing an initial map of transmission distortion based on high density hapmap snps across the human autosomes[J]. Journal of genetics and genomics,2009,36(12):703-709.
APA Deng, Libin.,Zhang, Dake.,Richards, Elliott.,Tang, Xiaoli.,Fang, Jin.,...&Wang, Yan.(2009).Constructing an initial map of transmission distortion based on high density hapmap snps across the human autosomes.Journal of genetics and genomics,36(12),703-709.
MLA Deng, Libin,et al."Constructing an initial map of transmission distortion based on high density hapmap snps across the human autosomes".Journal of genetics and genomics 36.12(2009):703-709.
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