Health

Why is hair kinky?

Gene ExpressionBy Razib KhanFeb 28, 2008 1:24 AM

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I saw this paper in Nature Genetics, Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair:

The genetic determinants of hair texture in humans are largely unknown. Several human syndromes exist in which woolly hair comprises a part of the phenotype; however, simple autosomal recessive inheritance of isolated woolly hair has only rarely been reported...In all cases, we discovered pathogenic mutations in P2RY5, which encodes a G protein-coupled receptor and is a nested gene residing within intron 17 of the retinoblastoma 1 (RB1) gene. P2RY5 is expressed in both Henle's and Huxley's layers of the inner root sheath of the hair follicle. Our findings indicate that disruption of P2RY5 underlies ARWH and, more broadly, uncover a new gene involved in determining hair texture in humans.

Disease loci can tell us a lot about the normal range of human variation; the blue-eye gene was originally implicated in a form of albinism. So I got curious and popped P2RY5 into Haplotter, which detects recent selection events. Here's what I found.... Here's iHS:

And H:

Looks like there's some action going on here. We're looking at Yoruba (YRI), European (CEU) and East Asian groups (ASN) if you didn't know. Here's the table which shows p-values in the genomic region around this locus:

Genes in the region

I'll let you figure out what's going on with NUDT15.... Related:EDAR controls hair thickness.

Gene ID Name RegionCEUYRIASN

8803SUCLA246314792 - 46373463

0.093768

0.011064

0.359281

55270NUDT1546409704 - 46419283

0.093768

0.005330

0.359281

29079MED446448093 - 46467241

0.117392

0.015274

0.539616

9445ITM2B46602310 - 46634228

0.999955

0.300291

0.999954

5925RB146675912 - 46854023

0.999955

0.021859

0.999954

10161P2RY546783275 - 46787947

0.999955

0.021814

0.539616

1102RCBTB246861100 - 46905317

0.999955

0.036685

0.539616

57105CYSLTR247078952 - 47081499

0.541838

0.999955

0.999954

9206RAD17P247415974 - 47418931

0.999955

0.225666

0.539616

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