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DNA Traits · Reproductive biology

Voice breaking timing, MKL2 marker

The age at which the voice breaks during puberty, as men recall it.

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Evidence · Replicated

What the research found

In the cited research, the C allele at rs246185 was associated with later recalled voice breaking in the studied men.

TT
Earlier
CT
Middle
CC
Later
Slight effect

What the study found

In the study, each copy went with recalled age at voice breaking about 0.09 years higher on average.

Men of European ancestry: 23andMe research participants · 55,871 people · Table 1, rs246185 row (16p13.12, MKL2), age at voice breaking columns; N from the Table 1 column header (Age at VB, N=55,871)
Evidence
Genome-wide association with independent replication
Who was studied
Men of European ancestry (23andMe; replication in UK Biobank)

The research behind this card was done only in men, so it is part of a report requested as male.

1000 Genomes Project

How common each genotype is

How common each genotype is in the 1000 Genomes Project, by region
RegionTTEarlierCTMiddleCCLater
All regions2,504 people42%42%15%
Africa661 people45%44%11%
The Americas347 people61%33%6%
East Asia504 people20%47%33%
Europe503 people47%41%12%
South Asia489 people45%44%11%

Among the 2,504 people of the 1000 Genomes Project, in five world regions. These percentages describe groups of people, never anyone’s chance of having a trait.

Ancient genomes

Through time

How often the studied letter was read in ancient people, era by era, in the region chosen.

Region
Through time: Europe
Before farmingbefore 6500 BC22%7 of 32 copies read
First farmers6500 to 3000 BC29%72 of 252 copies read
Bronze Age3000 to 1200 BC31%49 of 160 copies read
Iron Age and Antiquity1200 BC to AD 60035%105 of 296 copies read
Middle AgesAD 600 to 150031%87 of 280 copies read
Today1000 Genomes33%330 of 1,006 copies

Neanderthal and Denisovan genomes

Altai Neanderthal
Not read
Vindija Neanderthal
Not read
Chagyrskaya Neanderthal
No copies
Denisovan
Not read
For most ancient people only one of their two copies can be read, so these counts are copies read, not people. Close relatives, repeated samples and samples the archive marks as unreliable are left out. Damage in old DNA can fake this letter, so it is counted only from samples treated to remove that damage and from high-quality genomes. Ancient genomes from the Allen Ancient DNA Resource (AADR v66): 15,136 people.
rs246185

The marker

Gene or region
MKL2 (MRTFB) region
Marker
rs246185
Location
Chromosome 16 · GRCh37 14,395,432 · GRCh38 14,301,575
Letters studied
C and T, with C as the studied allele

A DNA Traits report reads this marker in your raw DNA file and shows which of the three genotypes is yours, with how common it is. It counts the copies of the studied allele; it does not measure the trait itself.

Marker
MKL2 (MRTFB) region · rs246185
Location
Chromosome 16 · GRCh37 14,395,432 · GRCh38 14,301,575
Studied allele
C
Published statistic
beta +0.09 years per C allele (SE 0.01), P 5.7e-14, N 55,871 (Day 2015 Table 1, alleles C/T/0.33). UK Biobank replication at proxy rs1704528 (r2 0.88 CEU, 0.86 GBR; C with C): late vs average +0.005556 (SE 0.000839), P 5.4e-11; early -0.005105, P 4.9e-12 (Hollis 2020 Supplementary Data 1) (Table 1, rs246185 row (16p13.12, MKL2), age at voice breaking columns; N from the Table 1 column header (Age at VB, N=55,871))
1000 Genomes Project phase 3, people with 0, 1 and 2 copies
All regions 1062 / 1063 / 379 · Africa 295 / 293 / 73 · The Americas 212 / 113 / 22 · East Asia 100 / 237 / 167 · Europe 235 / 206 / 62 · South Asia 220 / 214 / 55
Limits

What it cannot tell you

Studied in men of European ancestry who recalled, as adults, the age their voice broke. A single marker, one of dozens linked to puberty timing in men.

Shared genetic aetiology of puberty timing between sexes and with health-related outcomes (Day et al., 2015)
The same topic

More in Reproductive biology

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