Why are some human disease-associated mutations fixed in mice?

被引:49
作者
Gao, LZ [1 ]
Zhang, JZ [1 ]
机构
[1] Univ Michigan, Dept Ecol & Evolutionary Biol, Ann Arbor, MI 48109 USA
关键词
D O I
10.1016/j.tig.2003.10.002
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A recent comparative genomic analysis revealed the presence of nucleotide sequences in mouse that are known to be disease-associated in humans, yet the mouse appears normal. In this article we formulate and test several hypotheses in an attempt to explain why these apparently deleterious mutations become fixed in mice. We find that except for one case, the fixations of the disease-associated mutations occurred before the separation of Mus musculus and Mus spretus at least 1 million years ago and that the fixations are not attributable to a founder effect during the recent history of mouse breeding. About 80% of the cases involve diseases that occur before reproductive age in humans and these substitutions are unlikely to have been fixed because of the inefficiency of natural selection against late-onset diseases. We conclude that the compensatory mutation hypothesis remains the most probable explanation for the majority of the fixations of disease mutations in mice.
引用
收藏
页码:678 / 681
页数:4
相关论文
共 16 条
[1]   Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome [J].
Ahmed, SF ;
Cheng, A ;
Dovey, L ;
Hawkins, JR ;
Martin, H ;
Rowland, J ;
Shimura, N ;
Tait, AD ;
Hughes, IA .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (02) :658-665
[2]   Progressive muscular dystrophy in α-sarcoglycan-deficient mice [J].
Duclos, F ;
Straub, V ;
Moore, SA ;
Venzke, DP ;
Hrstka, RF ;
Crosbie, RH ;
Durbeej, M ;
Lebakken, CS ;
Ettinger, AJ ;
van der Meulen, J ;
Holt, KH ;
Lim, LE ;
Sanes, JR ;
Davidson, BL ;
Faulkner, JA ;
Williamson, R ;
Campbell, KP .
JOURNAL OF CELL BIOLOGY, 1998, 142 (06) :1461-1471
[3]   EVIDENCE FROM MTDNA SEQUENCES THAT COMMON LABORATORY STRAINS OF INBRED MICE ARE DESCENDED FROM A SINGLE FEMALE [J].
FERRIS, SD ;
SAGE, RD ;
WILSON, AC .
NATURE, 1982, 295 (5845) :163-165
[4]   Wild mice:: an ever-increasing contribution to a popular mammalian model [J].
Guénet, JL ;
Bonhomme, F .
TRENDS IN GENETICS, 2003, 19 (01) :24-31
[5]   MOULDING OF SENESCENCE BY NATURAL SELECTION [J].
HAMILTON, WD .
JOURNAL OF THEORETICAL BIOLOGY, 1966, 12 (01) :12-+
[6]   Intragenic suppression of an active site mutation in the human apurinic/apyrimidinic endonuclease [J].
Izumi, T ;
Malecki, J ;
Chaudhry, MA ;
Weinfeld, M ;
Hill, JH ;
Lee, JC ;
Mitra, S .
JOURNAL OF MOLECULAR BIOLOGY, 1999, 287 (01) :47-57
[7]   Dobzhansky-Muller incompatibilities in protein evolution [J].
Kondrashov, AS ;
Sunyaev, S ;
Kondrashov, FA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (23) :14878-14883
[8]   Resolution of the early placental mammal radiation using Bayesian phylogenetics [J].
Murphy, WJ ;
Eizirik, E ;
O'Brien, SJ ;
Madsen, O ;
Scally, M ;
Douady, CJ ;
Teeling, E ;
Ryder, OA ;
Stanhope, MJ ;
de Jong, WW ;
Springer, MS .
SCIENCE, 2001, 294 (5550) :2348-2351
[9]  
OHTA T, 1995, J MOL EVOL, V40, P56, DOI 10.1007/BF00166595
[10]   THE NEIGHBOR-JOINING METHOD - A NEW METHOD FOR RECONSTRUCTING PHYLOGENETIC TREES [J].
SAITOU, N ;
NEI, M .
MOLECULAR BIOLOGY AND EVOLUTION, 1987, 4 (04) :406-425