Rapid evolution of BRCA1 and BRCA2in humans and other primates

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

Species	SNPs^a	Genotype			p-value^b	Human^c	Human Polymorphisms
Species	SNPs^a	AA	AB	BB	p-value^b	Human^c	BIC^d	1000 genomes^e
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
	Δ1058-1064^HWD	6	0	1	0.008
	V1061V	6	1	0	0.841	I	delA*	delA*
	G1062G	6	1	0	0.841	G
Chimpanzee n = 44	E309K^HWD	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
	G590S^HWD	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
	G1077R^HWD	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*

^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.
^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.
^cAmino acid found in the human BRCA1 protein at each of the positions listed.
^dHuman variants found at the positions indicated in the Breast Cancer Information Core.
^eHuman variants found at the positions indicated in the 1000 Genomes database.
^*Known human disease-causing variant.
^HWD SNPs found to be in Hardy-Weinberg Disequilibrium.

ISSN: 2730-7182