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Table 2 SNP Analysis of BRCA1 in Bonobo, Chimpanzee, and Rhesus Macaque Individuals

From: Rapid evolution of BRCA1 and BRCA2in humans and other primates

Species SNPsa Genotype p-valueb Humanc Human Polymorphisms
AA AB BB BICd 1000 genomese
Bonobo n = 7 I493L 6 1 0 0.841 I   
T582M 6 1 0 0.841 T   
L833L 4 3 0 0.471 L dupAAGTATCCAT*  
V1047V 5 1 1 0.128 V   
G1048G 5 1 1 0.128 G G1048D, G1048V, G1048G G1048D, G1048V, G1048G
T1051I 5 1 1 0.128 T   
Δ1058-1064HWD 6 0 1 0.008    
V1061V 6 1 0 0.841 I delA* delA*
G1062G 6 1 0 0.841 G   
Chimpanzee n = 44 E309KHWD 19 14 11 0.023 K K309T K309Q, K309T
E427K 34 9 1 0.663 E   
S578S 40 4 0 0.752 S S578Y S578Y
G590SHWD 20 12 12 0.004 S S590G S590G
K731E 19 16 9 0.122 K delAGAAG* delAGAAG*
I925T 34 9 1 0.663 I I925L I925V, I925L, insT*
S1042S 41 3 0 0.823 S   
G1077RHWD 42 1 1 1.4E-5 G   G1077W, G1077G
G1100E 20 16 8 0.155 G   
Rhesus n = 44 A225A 42 2 0 0.888 A   
N375S 43 1 0 0.920 N delA*, N376S delA*, N376S
R466R 42 2 0 0.888 K K467X* K467X*
T487S 43 1 0 0.920 T insA* insA*
N684N 29 14 1 0.647 N   
V739M 38 6 0 0.624 V V740L V740L, insA*
D773G 29 15 0 0.173 G   
D852D 40 4 0 0.752 D insA* insA*
N923H 40 4 0 0.752 N   
K936K 40 4 0 0.752 K   
A1167E 40 4 0 0.752 A   
Q1203R 29 14 1 0.647 R R1203Q, R1203G, R1203X* R1203Q, R1203G, R1203X*
  1. aNumbering refers to the amino acid position in the respective primates. In the case of rhesus macaques, amino acids 375 to 936 correspond to amino acids 376 to 937 in humans.
  2. bp-values were calculated using a chi-squared test with a df = 1. A p-value cutoff (after Bonferroni correction) < 0.0056, 0.0056, and 0.0042 for bonobos, chimpanzees, and rhesus macaque, respectively, was considered statistically significant. Tests that survived this correction have the p-value listed in italics.
  3. cAmino acid found in the human BRCA1 protein at each of the positions listed.
  4. dHuman variants found at the positions indicated in the Breast Cancer Information Core.
  5. eHuman variants found at the positions indicated in the 1000 Genomes database.
  6. *Known human disease-causing variant.
  7. HWD SNPs found to be in Hardy-Weinberg Disequilibrium.