Skip to main content

Table 3 Human genes associated with an inherited disease that have been lost from the chimpanzee genome

From: Exploring the potential relevance of human-specific genes to complex disease

Gene

symbol

Gene name

Chrom.

loc.

Disease-associated

mutation (DM)

HGMD

accession

No.

HGMD

entry

tag

dbSNP

No.

Associated disease

state

Reference

No.

APOL1

Apolipoprotein L1

22q12.3

Missense (Ser342Gly)

Missense (Ile384Met)

Microdeletion (6 bp)

CM105041

CM105043

CD105044

DFP

DFP

DFP

rs73885319

rs60910145

rs71785313

Resistance to

trypanosomes

[47]

BTNL2

Butyrophilin-like 2

6p21.32

Splice site mutation

(IVS5 DS -1 G > A)

CS051245

DFP

rs2076530

Sarcoidosis,

association

with

[48]

CD24

CD24 molecule

6q21

Missense (Ala57Val)

CM035761

DFP

rs52812045

Multiple sclerosis,

modifier of

susceptibility to

Lupus erythematosus,

susceptibility to

Chronic hepatitis B

infection,

risk of

[49]

[50]

[51]

HCP5

HLA complex P5

6p21.3

Missense (Val112Gly)

CM074273

DP

rs2395029

Reduced HIV viral

load, association with

[52]

MICA

MHC class I

polypeptide-

related sequence A

6p21.33

Missense (Lys196Glu)

Missense (Val152Met)

CM0910116

CM058256

DP

DP

rs1051794

rs1051792

Rheumatoid arthritis,

association

with

Ankylosing spondylitis,

early onset,

association

with

[53]

[54]

NBEA

Neurobeachin

13q13.3

Balanced

translocation t(5;13)

(q12.1;q13.2)

CP035454

DM

--

Autism, idiopathic

[55]

RNASE3

Ribonuclease, RNase

A family, 3

14q11.2

Missense

(Thr124Arg)

CM025442

DFP

rs2073342

Expression of allergic

symptoms

Schistosoma mansoni

infection,

risk of

[56]

[57]

SFTPA1

Surfactant protein A1

10q22.3

Missense (Leu50Val)

Missense (Arg219Trp)

CM033024

CM033026

DP

DP

rs1136450

rs4253527

Idiopathic pulmonary

fibrosis, association

with

Idiopathic pulmonary

fibrosis, association

with

Tubersclerosis,

susceptibility to

[58]

[58]

[59]

  1. The eight genes listed were taken from a total of 55 genes that are present in human but which have been lost or been irrevocably disrupted in chimpanzee [46].
  2. Abbreviations: Chrom. loc., chromosomal localisation; dbSNP, the Single Nucleotide Polymorphism database; DFP, disease-associated polymorphism with supporting evidence of functionality; DP: disease-associated polymorphism in statistically significant association with a particular disease state but lacking experimental evidence of functionality. Of 105,018 unique mutations currently listed in the HGMD (October 2010), 99,716 are DMs, 2,065 are DPs, 2,238 are functional polymorphisms (FPs) and 999 are DFPs. Of the 3,851 different human genes listed in the HGMD, 2,629 contain DMs, while 1,222 contain only DFPs or FPs (in the absence of DMs).