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2014 ; 22
(11
): 1260-7
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Systematic large-scale study of the inheritance mode of Mendelian disorders
provides new insight into human diseasome
#MMPMID24448549
Hao D
; Wang G
; Yin Z
; Li C
; Cui Y
; Zhou M
Eur J Hum Genet
2014[Nov]; 22
(11
): 1260-7
PMID24448549
show ga
One important piece of information about the human Mendelian disorders is the
mode of inheritance. Recent studies of human genetic diseases on a large scale
have provided many novel insights into the underlying molecular mechanisms.
However, most successful analyses ignored the mode of inheritance of diseases,
which severely limits our understanding of human disease mechanisms relating to
the mode of inheritance at the large scale. Therefore, we here conducted a
systematic large-scale study of the inheritance mode of Mendelian disorders, to
bring new insight into human diseases. Our analyses include the comparison
between dominant and recessive disease genes on both genomic and proteomic
characteristics, Mendelian mutations, protein network properties and disease
connections on both the genetic and the population levels. We found that dominant
disease genes are more functionally central, topological central and more
sensitive to disease outcome. On the basis of these findings, we suggested that
dominant diseases should have higher genetic heterogeneity and should have more
comprehensive connections with each other compared with recessive diseases, a
prediction we confirm by disease network and disease comorbidity.