List of Y-STR markers

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

Contents

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 700 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

STRNotes DNA sequence repeat motif Alleles Mutation rateLinks
DYS19=14see DYS394
DYS385DYS385 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.GAAA13-180.00226 NIST fact sheet
DYS388ATT170.00022 [5]
DYS389DYS389 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)230.00311 NIST fact sheet
DYS391TCTA110.00265 NIST fact sheet
DYS392TAT110.00052 [5] NIST fact sheet
DYS393DYS393 is also known as DYS395.AGAT120.00076 NIST fact sheet
DYS394DYS394 is also known as DYS19.TAGA140.00151 NIST fact sheet
DYS413Found in the Palindromic region of the Y DNA21-22
DYS425DYS425, 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.TGT12 [5]
DYS426GTT110.00009 [5] NIST fact sheet
DYS434TAAT (CTAT)9 NIST fact sheet
DYS435TGGA
11
DYS436GTT12 [5]
DYS437TCTA140.00099 NIST fact sheet
DYS438TTTTC100.00055 NIST fact sheet
DYS439DYS439 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.AGAT120.00477 NIST fact sheet
DYS441CCTT15 A novel multiplex PCR system
DYS442TATC110.00324 A novel multiplex PCR system
DYS443TTCC
0
DYS444TAGA11 A novel multiplex PCR system
DYS445TTTA11 A novel multiplex PCR system
DYS446TCTCT14 Sorenson Marker Details
DYS447TAAWA260.00264 NIST fact sheet
DYS448AGAGAT200.00135 NIST fact sheet
DYS449TTTC250.00838 Sorenson Marker Details
DYS450TTTTA8
DYS452YATAC29
DYS453AAAT0
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).AAAT110.00016
DYS455AAAT110.00016 Sorenson Marker Details
DYS456AGAT140.00735 Sorenson Marker Details
DYS458GAAA180.00814 Sorenson Marker Details
DYS459This is a multi-copy marker, and includes DYS459a and DYS459b.TAAA8-90.00132
DYS460DYS460 was originally known as Y-GATA-A7.1.ATAG100.00402 NIST fact sheet
DYS461DYS461 was originally known as Y-GATA-A7.2.(TAGA) CAGA11 NIST fact sheet
DYS462TATG11
DYS463AARGG22
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 DNACCTT12-14-16-170.00566 Forensic value of the multicopy Y-STR marker DYS464

DYS464X testing
DYS464 discrepancies

DYS481CTT26 [5]
DYS485TTA15 [5]
DYS487ATT13 [5]
DYS490TTA12 [5]
DYS494TAT9 [5]
DYS495AAT15 [5]
DYS497TAT15 [5]
DYS50414
DYS505TCCT13
DYS508TATC0
DYS518AAAG0 NIST Comm. Kits
DYS520ATAS21
DYS522GATA13
DYS525TAGA10
DYS531AAAT11
DYS532CTTT10
DYS533ATCT11
DYS534CTTT15
DYS540TTAT11
DYS549AGAT13
DYS556AATA12
DYS557TTTC18
DYS565TAAA11
DYS570TTTC12-230.00790
DYS572AAAT12
DYS573TTTA0
DYS575AAAT8-12
DYS576AAAG170.01022
DYS578AAAT8
DYS589TTATT11
DYS590TTTTG8
DYS594TAAAA10
DYS607AAGG140.00411
DYS612
DYS614
DYS626AAAG
DYS627AAAG0 NIST Comm. Kits
DYS632CATT8
DYS635Also known as Y-GATA-C4TSTA compound210.0046 NIST fact sheet
DYS63611
DYS638TTTA11
DYS641TAAA10
DYS643CTTTT9
DYS710GAAA36
DYS714TTTTC25
DYS716CCATT27
DYS717TGTAT20
DYS724Palindromic; also known as CDY33-350.03531
DYS725Palindromic
DYS726YSTR marker in the pericentromeric region.12
DYF371DYF371 is a multicopy, palindromic region marker. Includes the DYS425 marker & can be informative in cases of null values at that marker.12
DYF385S1Duplicated YSTR marker in close proximity to DYS4598-9
DYF387S1 a/bRAAG0 NIST Comm. Kits
DYF397DYF397 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
DYF401DYF401 is a palindromic region marker.
DYF406S111
DYF408DYF408 is a palindromic region marker.
DYF411DYF411 is a palindromic region marker.
DXYS156
YCAIIYCAII is a multi-copy marker which includes YCAIIa & YCAIIb22-220.00123
Y-GATA-H4TAGA100.00208 NIST fact sheet
Y-GATA-C4see DYS635
Y-GATA-A10TAGA14 NIST fact sheet
Y-GGAAT-1B0711

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. 1 2 3 4 5 6 7 8 9 10 11 12 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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