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List of Y-STR markers

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The following list of Y-STR markers are commonly used in forensic[1] and genealogical DNA testing.

DYS454 is the least diverse, and multi-copy marker DYS464 is the most diverse Y-STR marker.

The location on the Y-chromosome of numbered Y-STR markers can be roughly given with cytogenetic localization. For example, DYS449 is located at Yp11.2 - meaning the Y-chromosome, petit arm, band 1, sub-band 1, sub-sub-band 2 - DYS449.[2]

Forensic Labs usually use PowerPlex Y (Promega Corporation) and Yfiler (Applied Biosystems) kits that examine 12 or 17 Y-STRs, respectively. Genealogical DNA test labs examine up to 442 Y-STRs.

Mutation rates

Mutation rates are those per generation, as estimated in Chandler (2006).[3] The quoted estimated errors are typically +/- 15-20%. Alternative estimates (for forensic use therefore not all markers are covered) from observed pedigrees are also available at the Y Chromosome Haplotype Reference Database.

It appears that some trinucleotide markers may have much higher mutation rates at some repeat lengths than at others. For example, variation of the trinucleotide DYS388 is generally very slow in most haplogroups, when it takes the values 11-13. But there appears to be much greater variation and more rapid mutation in Haplogroup J, where it typically has values 14-18. Similarly the trinucleotide DYS392 is reported to be "fast" in haplogroups N and Q, where it takes values 14-16 which are rare in other groups.[4]

Y-STR markers

STR notes DNA sequence repeat motif alleles mutation rate links
DYS19=14 see DYS394 — — — —
DYS385 DYS385 is a multi-copy marker, and includes DYS385a and DYS385b. The order of DYS385a and DYS385b may be reversed, their sequence is referred to as the Kittler order. GAAA 13-18 0.00226 NIST fact sheet
DYS388 ATT 17 0.00022 [5]
DYS389 DYS389 is a multi-copy marker, and includes DYS389i and DYS389ii. DYS389ii refers to the total length of DYS389. Therefore, when there is a one step mutation at DYS389i, it will also appear in DYS389ii. (TCTG) (TCTA) (TCTG) (TCTA) i:13

ii:30

0.00186, 0.00242 NIST fact sheet
DYS390 (TCTA) (TCTG) 23 0.00311 NIST fact sheet
DYS391 TCTA 11 0.00265 NIST fact sheet
DYS392 TAT 11 0.00052 [5] NIST fact sheet
DYS393 DYS393 is also known as DYS395. AGAT 12 0.00076 NIST fact sheet
DYS394 DYS394 is also known as DYS19. TAGA 14 0.00151 NIST fact sheet
DYS413 Found in the Palindromic region of the Y DNA 21-22
DYS425 DYS425, when it can be measured, is very stable. However it is actually one copy of a multiple part marker, DYF371 (below), and as such recLOH mutations can often make it unmeasurable when the other copies overwrite it. For example, it is associated with the defining SNP for I-M38 (I2a2a1a1; formerly I1b2a1), as the SNP M284 can render a null value at this marker. Most members of E-M96 and sub-clades also render null values. Nevertheless, it was one of the small number of markers originally offered by Oxford Ancestors, and Family Tree DNA later chose to offer it to genealogists also. TGT 12 [5]
DYS426 GTT 11 0.00009 [5] NIST fact sheet
DYS434 TAAT (CTAT) 9 NIST fact sheet
DYS435 TGGA

11

DYS436 GTT 12 [5]
DYS437 TCTA 14 0.00099 NIST fact sheet
DYS438 TTTTC 10 0.00055 NIST fact sheet
DYS439 DYS439 is also known as Y-GATA-A4. DYS439 is associated with the defining SNP for haplogroup R1b1c9a, as the SNP can render a null value at this marker. AGAT 12 0.00477 NIST fact sheet
DYS441 CCTT 15 A novel multiplex PCR system
DYS442 TATC 11 0.00324 A novel multiplex PCR system
DYS443 TTCC

0

DYS444 TAGA 11 A novel multiplex PCR system
DYS445 TTTA 11 A novel multiplex PCR system
DYS446 TCTCT 14 Sorenson Marker Details
DYS447 TAAWA 26 0.00264 NIST fact sheet
DYS448 AGAGAT 20 0.00135 NIST fact sheet
DYS449 TTTC 25 0.00838 Sorenson Marker Details
DYS450 TTTTA 8
DYS452 YATAC 29
DYS453 AAAT 0
DYS454
 DYS454 is the least varying Y-STR marker commonly used in genealogical DNA testing. Of the entries for DYS454 at Ybase, 96% have 11 repeats, 3% have 10 repeats, and 2% have 12 repeats (source). AAAT 11 0.00016
DYS455 AAAT 11 0.00016 Sorenson Marker Details
DYS456 AGAT 14 0.00735 Sorenson Marker Details
DYS458 GAAA 18 0.00814 Sorenson Marker Details
DYS459 This is a multi-copy marker, and includes DYS459a and DYS459b. TAAA 8-9 0.00132
DYS460 DYS460 was originally known as Y-GATA-A7.1. ATAG 10 0.00402 NIST fact sheet
DYS461 DYS461 was originally known as Y-GATA-A7.2. (TAGA) CAGA 11 NIST fact sheet
DYS462 TATG 11
DYS463 AARGG 22
DYS464
 DYS464 is a multi-copy palindromic marker. Men typically have four copies known in such cases as DYS464a, DYS464b, DYS464c, and DYS464d. There can be less than four copies, or more, which in such cases would be known as DYS464e, DYS464f, etc. DYS464 is the most diverse range of values of any Y-STR marker (source). This marker can also sometimes be typed with separate g-types and c-types to increase resolution. The type variance is based on a SNP that can be found in most R1b haplogroup males. It is part of the Palindromic region of Y DNA CCTT 12-14-16-17 0.00566 Forensic value of the multicopy Y-STR marker DYS464

DYS464X testing
DYS464 discrepancies

DYS481 CTT 26 [5]
DYS485 TTA 15 [5]
DYS487 ATT 13 [5]
DYS490 TTA 12 [5]
DYS494 TAT 9 [5]
DYS495 AAT 15 [5]
DYS497 TAT 15 [5]
DYS504 14
DYS505 TCCT 13
DYS508 TATC 0
DYS518 AAAG 0 NIST Comm. Kits
DYS520 ATAS 21
DYS522 GATA 13
DYS525 TAGA 10
DYS531 AAAT 11
DYS532 CTTT 10
DYS533 ATCT 11
DYS534 CTTT 15
DYS540 TTAT 11
DYS549 AGAT 13
DYS556 AATA 12
DYS557 TTTC 18
DYS565 TAAA 11
DYS570 TTTC 12-23 0.00790
DYS572 AAAT 12
DYS573 TTTA 0
DYS575 AAAT 8-12
DYS576 AAAG 17 0.01022
DYS578 AAAT 8
DYS589 TTATT 11
DYS590 TTTTG 8
DYS594 TAAAA 10
DYS607 AAGG 14 0.00411
DYS612
DYS614
DYS626 AAAG
DYS627 AAAG 0 NIST Comm. Kits
DYS632 CATT 8
DYS635 Also known as Y-GATA-C4 TSTA compound 21 0.0046 NIST fact sheet
DYS636 11
DYS638 TTTA 11
DYS641 TAAA 10
DYS643 CTTTT 9
DYS710 36
DYS714 25
DYS716 CCATT 27
DYS717 20
DYS724 Palindromic; also known as CDY 33-35 0.03531
DYS725 Palindromic
DYS726 YSTR marker in the pericentromeric region. 12
DYF371 DYF371 is a multicopy, palindromic region marker. Includes the DYS425 marker & can be informative in cases of null values at that marker. 12
DYF385S1 Duplicated YSTR marker in close proximity to DYS459 8-9
DYF387S1 a/b RAAG 0 NIST Comm. Kits
DYF397 DYF397 is a palindromic region marker.
DYF399
 An asymmetric three allele STR locus that can be used to observe deletions and recombinational rearrangements in the palindromic region of the Y chromosome. 17-29 (many incomplete alleles) nomenclature
DYF401 DYF401 is a palindromic region marker.
DYF406S1 11
DYF408 DYF408 is a palindromic region marker.
DYF411 DYF411 is a palindromic region marker.
DXYS156
YCAII YCAII is a multi-copy marker which includes YCAIIa & YCAIIb 22-22 0.00123
Y-GATA-H4 TAGA 10 0.00208 NIST fact sheet
Y-GATA-C4 see DYS635
Y-GATA-A10 TAGA 14 NIST fact sheet
Y-GGAAT-1B07 11

Y-STR allele nomenclatures

DNA testing companies or labs in certain cases use different nomenclatures to designate the same Y-STR allele. Thus, a conversion must be applied in these cases to accurately compare Y-STR results obtained from different companies. The most common nomenclature is based on guidance provided by NIST for Y-STR markers historically reported differently by various companies. The NIST standard is the proposal of ISOGG (International Society of Genetic Genealogy) for genetic genealogy companies.[6][7]

Notes and references

  1. ^ "Interview with John Butler and Members of the NIST Human Identity Project Team". JoGG. Retrieved 11 August 2012.
  2. ^ DYS449 in the GDB Human Genome Database
  3. ^ Chandler (2006) (but see also this mailing list discussion)
  4. ^ "GENEALOGY-DNA-L Archives — DYS 388 Mutation Rate?". Archived from the original on 2007-10-03. Retrieved 2007-02-27.
  5. ^ a b c d e f g h i j k l Trinucleotide - see #Mutation rates
  6. ^ "Marker Standards". Sorenson Molecular Genealogy Foundation. Archived from the original on 21 July 2012. Retrieved 11 August 2012.
  7. ^ Matthiesen, Diana Gale (19 July 2011). "Converting Y-DNA STR Test Results between SMGF, AncestryDNA, and FamilyTreeDNA". Retrieved 11 August 2012.

See also

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