Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

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Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. / Zhang, Guojie; Pei, Zhang; Krawczak, Michael; Ball, Edward V; Mort, Matthew; Kehrer-Sawatzki, Hildegard; Cooper, David N.

In: Human Mutation, Vol. 31, No. 12, 2010, p. 1286-93.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Zhang, G, Pei, Z, Krawczak, M, Ball, EV, Mort, M, Kehrer-Sawatzki, H & Cooper, DN 2010, 'Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations', Human Mutation, vol. 31, no. 12, pp. 1286-93. https://doi.org/10.1002/humu.21389

APA

Zhang, G., Pei, Z., Krawczak, M., Ball, E. V., Mort, M., Kehrer-Sawatzki, H., & Cooper, D. N. (2010). Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Human Mutation, 31(12), 1286-93. https://doi.org/10.1002/humu.21389

Vancouver

Zhang G, Pei Z, Krawczak M, Ball EV, Mort M, Kehrer-Sawatzki H et al. Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. Human Mutation. 2010;31(12):1286-93. https://doi.org/10.1002/humu.21389

Author

Zhang, Guojie ; Pei, Zhang ; Krawczak, Michael ; Ball, Edward V ; Mort, Matthew ; Kehrer-Sawatzki, Hildegard ; Cooper, David N. / Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations. In: Human Mutation. 2010 ; Vol. 31, No. 12. pp. 1286-93.

Bibtex

@article{b6a6c008639f464ca79a68820aeb69e5,
title = "Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations",
abstract = "Triangulation of the human, chimpanzee, and Neanderthal genome sequences with respect to 44,348 disease-causing or disease-associated missense mutations and 1,712 putative regulatory mutations listed in the Human Gene Mutation Database was employed to identify genetic variants that are apparently pathogenic in humans but which may represent a {"}compensated{"} wild-type state in at least one of the other two species. Of 122 such {"}potentially compensated mutations{"} (PCMs) identified, 88 were deemed {"}ancestral{"} on the basis that the reported wild-type Neanderthal nucleotide was identical to that of the chimpanzee. Another 33 PCMs were deemed to be {"}derived{"} in that the Neanderthal wild-type nucleotide matched the human but not the chimpanzee wild-type. For the remaining PCM, all three wild-type states were found to differ. Whereas a derived PCM would require compensation only in the chimpanzee, ancestral PCMs are useful as a means to identify sites of possible adaptive differences between modern humans on the one hand, and Neanderthals and chimpanzees on the other. Ancestral PCMs considered to be disease-causing in humans were identified in two Neanderthal genes (DUOX2, MAMLD1). Because the underlying mutations are known to give rise to recessive conditions in human, it is possible that they may also have been of pathological significance in Neanderthals. Hum Mutat 31:1-8, 2010. {\textcopyright} 2010 Wiley-Liss, Inc.",
keywords = "Amino Acid Sequence, Animals, Base Sequence, DNA-Binding Proteins, Databases, Genetic, Disease, Genetics, Population, Genome, Haplotypes, Hominidae, Humans, Molecular Sequence Data, Mutation, Pan troglodytes",
author = "Guojie Zhang and Zhang Pei and Michael Krawczak and Ball, {Edward V} and Matthew Mort and Hildegard Kehrer-Sawatzki and Cooper, {David N}",
note = "{\textcopyright} 2010 Wiley-Liss, Inc.",
year = "2010",
doi = "10.1002/humu.21389",
language = "English",
volume = "31",
pages = "1286--93",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "JohnWiley & Sons, Inc.",
number = "12",

}

RIS

TY - JOUR

T1 - Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations

AU - Zhang, Guojie

AU - Pei, Zhang

AU - Krawczak, Michael

AU - Ball, Edward V

AU - Mort, Matthew

AU - Kehrer-Sawatzki, Hildegard

AU - Cooper, David N

N1 - © 2010 Wiley-Liss, Inc.

PY - 2010

Y1 - 2010

N2 - Triangulation of the human, chimpanzee, and Neanderthal genome sequences with respect to 44,348 disease-causing or disease-associated missense mutations and 1,712 putative regulatory mutations listed in the Human Gene Mutation Database was employed to identify genetic variants that are apparently pathogenic in humans but which may represent a "compensated" wild-type state in at least one of the other two species. Of 122 such "potentially compensated mutations" (PCMs) identified, 88 were deemed "ancestral" on the basis that the reported wild-type Neanderthal nucleotide was identical to that of the chimpanzee. Another 33 PCMs were deemed to be "derived" in that the Neanderthal wild-type nucleotide matched the human but not the chimpanzee wild-type. For the remaining PCM, all three wild-type states were found to differ. Whereas a derived PCM would require compensation only in the chimpanzee, ancestral PCMs are useful as a means to identify sites of possible adaptive differences between modern humans on the one hand, and Neanderthals and chimpanzees on the other. Ancestral PCMs considered to be disease-causing in humans were identified in two Neanderthal genes (DUOX2, MAMLD1). Because the underlying mutations are known to give rise to recessive conditions in human, it is possible that they may also have been of pathological significance in Neanderthals. Hum Mutat 31:1-8, 2010. © 2010 Wiley-Liss, Inc.

AB - Triangulation of the human, chimpanzee, and Neanderthal genome sequences with respect to 44,348 disease-causing or disease-associated missense mutations and 1,712 putative regulatory mutations listed in the Human Gene Mutation Database was employed to identify genetic variants that are apparently pathogenic in humans but which may represent a "compensated" wild-type state in at least one of the other two species. Of 122 such "potentially compensated mutations" (PCMs) identified, 88 were deemed "ancestral" on the basis that the reported wild-type Neanderthal nucleotide was identical to that of the chimpanzee. Another 33 PCMs were deemed to be "derived" in that the Neanderthal wild-type nucleotide matched the human but not the chimpanzee wild-type. For the remaining PCM, all three wild-type states were found to differ. Whereas a derived PCM would require compensation only in the chimpanzee, ancestral PCMs are useful as a means to identify sites of possible adaptive differences between modern humans on the one hand, and Neanderthals and chimpanzees on the other. Ancestral PCMs considered to be disease-causing in humans were identified in two Neanderthal genes (DUOX2, MAMLD1). Because the underlying mutations are known to give rise to recessive conditions in human, it is possible that they may also have been of pathological significance in Neanderthals. Hum Mutat 31:1-8, 2010. © 2010 Wiley-Liss, Inc.

KW - Amino Acid Sequence

KW - Animals

KW - Base Sequence

KW - DNA-Binding Proteins

KW - Databases, Genetic

KW - Disease

KW - Genetics, Population

KW - Genome

KW - Haplotypes

KW - Hominidae

KW - Humans

KW - Molecular Sequence Data

KW - Mutation

KW - Pan troglodytes

U2 - 10.1002/humu.21389

DO - 10.1002/humu.21389

M3 - Journal article

C2 - 21064102

VL - 31

SP - 1286

EP - 1293

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 12

ER -

ID: 43544532