• Gene id: 1617

Gene Summary

• Gene Symbol: DAZ1   Gene   UCSC   Ensembl
• Aliases: DAZ, SPGY
• Gene name: deleted in azoospermia 1
• Alternate names: deleted in azoospermia protein 1, testicular tissue protein Li 49,
• Gene location: Yq11.223 (23199116: 23129354)     Exons: 28     NC_000024.10
• Gene summary(Entrez): This gene is a member of the DAZ gene family and is a candidate for the human Y-chromosomal azoospermia factor (AZF). Its expression is restricted to premeiotic germ cells, particularly in spermatogonia. It encodes an RNA-binding protein that is important
• OMIM: 400003

Protein Summary

• Protein general information: Q9NQZ3  
  • Name: Deleted in azoospermia protein 1
  • Length: 744  
  • Mass: 82,764
  • Tissue specificity: Bone marrow cells.
• Sequence:

  MSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCFGRYGSVKEVKIITNR
  TGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPPPPQFQNVWRNPNTET
  YLQPQITPNPVTQHVQSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVGGIDARMDETEIGSCF
  GRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLCARHVQPRPLVVNPPP
  PPQFQNVWRNPNTETYLQPQITPNPVTQHVQSAANPETPNSTISREASTQSSSAAASQGWVLPEGKIVPNTVFVG
  GIDARMDETEIGSCFGRYGSVKEVKIITNRTGVSKGYGFVSFVNDVDVQKIVGSQIHFHGKKLKLGPAIRKQKLC
  ARHVQPRPLVVNPPPPPQFQNVWRNPNTETYLQPQITPNPVTQHVQAYSAYPHSPGQVITGCQLLVYNYQEYPTY
  PDSAFQVTTGYQLPVYNYQPFPAYPRSPFQVTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQPFPAYPSS
  PFQVTAGYQLPVYNYQAFPAYPNSPFQVATGYQFPVYNYQAFPAYPNSPVQVTTGYQLPVYNYQAFPAYPSSPFQ
  VTTGYQLPVYNYQAFPAYPNSAVQVTTGYQFHVYNYQMPPQCPVGEQRRNLWTEAYKWWYLVCLIQRRD

• Structural information:
  • Protein Domains: RRM (40-115)
    RRM (205-280)
    RRM (370-445)
    DAZ-like (500-520)
    DAZ-like (524-544)
    (549-)
  • Interpro: IPR037366  IPR034778  IPR037551  IPR012677  IPR035979   IPR000504  
  • Prosite: PS50102
  • CDD: cd12672
  • STRING: ENSP00000384573
• Other Databases: GeneCards:  DAZ1  Malacards:  DAZ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008494	translation activator activity	IDA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0045948	positive regulation of translational initiation	IDA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008494	translation activator activity	IDA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0045948	positive regulation of translational initiation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008494	translation activator activity	IDA	molecular function
GO:0045948	positive regulation of translational initiation	IDA	biological process

Diseases

Associated diseases	References
Oligozoospermia	GAD: 16580401
Sertoli cell only syndrome (SCOS)	GAD: 18326516
Klinefelter syndrome	INFBASE: 14517364
Hypergonadotropic hypogonadism	INFBASE: 14978955
Turners syndrome	INFBASE: 19030103
Oligoasthenozoospermia	MIK: 20542509
Azoospermia	MIK: 11807882
Male factor infertility	MIK: 18782837
Cryptorchidism	MIK: 17609244
Hypogonadotropic hypogonadism	MIK: 9880685
Asthenozoospermia	MIK: 10402374
Maturation arrest	MIK: 9872361
Maturation arrest	MIK: 20576090
Oligoasthenoteratozoospermia	MIK: 20685756
Testicular developmental defects	MIK: 20626165
Non obstructive azoospermia	MIK: 9783841
Hypospermatogenesis	MIK: 10469697
Oligozoospermia	MIK: 26638807
Sertoli cell only syndrome (SCOS)	MIK: 9872361
Oligozoospermia	MIK: 11870237
Spermatogenesis defects	MIK: 22927988
Spermatogenesis defects	MIK: 9237238
Spermatogenesis defects	MIK: 17285591
Sertoli cell only syndrome (SCOS)	MIK: 10469697
Hypospermatogenesis	MIK: 11263480
Spermatogenesis defects	MIK: 24935076
Oligoasthenoteratozoospermia	MIK: 15474244
Spermatogenesis defects	MIK: 15513974
Oligozoospermia	MIK: 9391878
Azoospermia	MIK: 11163833
Oligozoospermia	MIK: 26149076
Spermatogenic impairment	MIK: 24935076
Cryptorchidism	MIK: 17609244
Hypogonadotropic hypogonadism	MIK: 9880685
Male infertility	MIK: 11883873
Spermatogenesis defects	MIK: 17285591
Non obstructive azoospermia	MIK: 21548847
Oligoasthenospermia	MIK: 10685522
Oligozoospermia	MIK: 25594150
Oligoasthenoteratozoospermia (OAT)	MIK: 20685756
Hypospermatogenesis	MIK: 11263480
Sertoli cell-only syndrome	MIK: 11263480
Testicular disorder of sex development	MIK: 20626165

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22844483	Infertility	Mutation study		31 infertile males and 67 normal fertile males	Male infertility	BPY2 SRY USP9Y DBY CDY sY113 DYZ1 KPNB1 and sY129
21852246	Idiopathic infertile men	Partial AZFc deletions	Ethnic Han-Chi nese fr om East China	711 idiopathic infertile men and 390 healthy controls	Male infertility
21735657	Idiopathic infertile men	gr/gr deletion		5 246 cases of idiopathic infertility and 4 380 controls	Male infertility
20823911	Infertility	gr/gr, b1/b3, b2/b3, subdeletions. Haplogroups found in gr/gr deleted azoospermic men include C*, F*, J1, O3e, HG, J1, R2 Y, C*and R1a1	Indian	236 azoospermic, 182 oligospermic and 240 healthy normozoospermic men	Male infertility	RBMY BPY2 CDY1 PRY CSPG4LY GOLGA2LY TTTY3 TTTY4 TTTY5 TTTY6 and TTTY17
20685756	Oligoasthenoteratozoospermic (OAT)		Portuge se	15 men undergoing spermiogram analyses for infertility, 5 men selected with OAT, 5 controls	Male infertility
20663794	Infertility	gr/gr deletions in haplogroup D	Japanes e	395 infertile men and 377 fertile men	Male infertility	CDY1
20170395	Idiopathic infertility			174 idiopathic infertile patients and 58 fertile controls	Male infertility
19865085	Infertility				Male infertility
18990391	Infertility	partial AZFc deletions	Mixed e thnic b ackgrou nds	364 infertile men from mixed ethnic backgrounds, 193 fertile men (84) and/or normospermic (109).	Male infertility
18807255	Infertility	partial AZFc deletions (gr/gr deletion, b2/b3 deletions)	Italian	Population for studying clinical significance: 556 infertile patients and 487 normozoospermic controls, Studying role of AZFc in spermatogenic failure: 229 infertile patients and 263 normozoospermic controls	Male infertility
16777954	Infertility	Deletion, snps	Portuge se	97 infertile ( sertoli-cell-only syndrome, maturation arrest, hipospermatogenesis), 91 fertile, 19 infertile (complete AZFc deletions)	Male infertility
16674553	Infertility	gr/gr deletion in haplogroup D2b	East As ian Pop ulation (Han, Hmong, Mien, M ongolia n, Naxi , Tujia , Uigur and Zh uang), Control s and P atients (Han	886 (east asian population sample), 87 (49 azoospermic, 16 severe Oligozoospermia, 22 oligospermic), 89 controls)	Male infertility	DAZ2 DAZ4 DAZ3
16574598	Infertility	Microdeletions in Yq11	Tunisia n	34 (16 oligozoospermic and 18 azoospermic men)	Male infertility
16491273	Infertility	AGFc deletions	Taiwane se	460 infertile men	Male infertility
16275261	Infertility	Deletions and duplications in the DAZ gne cluster	Slovene or of Slavic origin	90 infertile ( 44 azoospermia, 46 severe oligozoospermia), 50 controls	Male infertility
16078663	Infertility	Deletion of DAZ gene copy	Chinese	453 infertile (247 azoospermic and 206 severe oligozoospermic), Controls (210)	Male infertility
15937085	Infertility	gr/ gr deletions	Italian	150 infertile (89 idiopathic and 61 with mild abnormal andrological findings:varicocele, monolateral cryptorchidism, recurrent infections), 189 normospermic controls	Male infertility	CDY
15937085	Spermatogenic impairment, male infertility	Partial AZFc region deletions	Caucasi an orig in (Nor th Ital y)	337 Infertile(73 with non-obstructive azoospermia, 193 with severe oligozoospermia and 71 with moderate oligozoospermia), 263 normozoospermic fertile men	Male infertility
15571102	Male infertility	Deletions and duplications of the DAZ gene	Sloveni an and Bosnian popula tion		Male infertility
15520406	Infertility	Partial AZFc deletions (gr/gr and b1/b3)		300 Infertile men (unexplained infertility and reduced or absent sperm counts), 210 (unknown fetility status), 189(fertile)	Male infertility	DAZ3 CDY1a
15476166	Infertility	Partial copy deletion of DAZ gene family		363 Infertile (197 Azoospermia, 166 severe oligozoospermia), 210 controls	Male infertility	DAZ2
15347736	Infertility	AZF and DAZ gene copy-specific deletion		91 Infertile males ( 52 meiotic arrest, 39 Sertoli cell-only syndrome), 114 Controls	Male infertility
15265388	Infertility	Deletion of DAZ gene copies		210 Fertile , 407 idiopathic infertile ( 216 azoospermia, 189 severe oligozoospermia)	Male infertility	DAZ2 DAZ4 DAZ3
15066460	Spermatogenic failure			34 Infertile	Male infertility	BOULE DAZL
15066457	Infertility	Complete AZF deletions and partial DAZ deletions		193 (95 cryptorchidism orchidopexied in childhood (57 bilateral maldescent, 38 by unilateral maldescent, 37 azoospermia and Sertoli cell-only syndrome, 58 severe oligozoospermia ), 98 idiopathic (36 azoospermia and Sertoli cell-only syndrome, 62 severe Ol	Male infertility
14639527	Infertility	Deletion in Y haplogroup N			Male infertility	BPY2.2 BPY2.3 DAZ4 DAZ3
14574809	Infertility	AZFc/DAZ microdeletions		117 (azoospermic and oligozoospermic)	Male infertility
12801575	Infertility	Reduced copy number of the DAZ genes		5 siblings (primary infertility),	Male infertility
12624949	Severe spermatogenic defect	Deletions involved AZFc in six patients, AZFa in one patient, AZFb + c in two patients, and AZFa + b + c in one patient.		82 (10 severe idiopathic spermatogenetic defects)	Male infertility	AZFa b c
12525536	Infertility	Absence of sY117, sY125, and sY127 regions, AZFb deletions		700 infertile (Azoospermia or Oligozoospermia)	Male infertility	DBY USP9Y RBMY1 CDY2 XKRY
12414900	Spermatogenic failure	T54A polymorphisms, Y-chromosome microdeletion	Han Chi nese	163 infertile , 116 fertile	Male infertility	DAZL
12091794	Male infertility	Deletions in the AZF region			Male infertility	USP9Y DBY in AZFa RBMY1 in AZFb
11883873	Idiopathic infertile men	Deletion of DAZ gene copy			Male infertility	DAZ2
11807882	Azoospermia	Deletion RBM and DAZ and translocation of SRY gene		1 infertile	Male infertility	RBM SRY
11779593	Subfertile and Infertile men	Translocation on XY chromosome, deletion in the AZF b, c region		139 male factor subfertility and infertility	Male infertility	DAZ2 DAZ4 DAZ3
11756355	Infertility	Sex-chromosomal aneuploidy, translocations, Y chromosomal microdeletions		150 infertile	Male infertility	AZF CFTR
11694223	Infertility	Microdeletions in Yq		2 infertile	Male infertility
11687796	Infertility	Deletions in the AZF region			Male infertility
11390979	Infertility	Deletions in the DAZ gene			Male infertility	CDY1
11239526	Infertility	Deletions in the DAZ gene		19 infertile	Male infertility
11095434	Infertility	Partial deletion of DAZ cluster		1 infertile	Male infertility
10956550	Infertility	AZFc - deleted Y chromosome lacking DAZ, BYP2, CDY1		3 infertile	Male infertility	BYP2 CDY1
10908277	Infertility	Y chromosome deletions		181 ( 95 non-obstructive azoospermia, 86 severe oligozoospermia)	Male infertility
10856465	Infertility				Male infertility	PGK2 Protamine-2
10819768	Infertility				Male infertility
10685522	Infertility			25 infertile (nonobstructive azoospermia and oligoasthenospermia)	Male infertility
10685522	Infertility	Deletion in the AZFc region involving both DAZ and CDY1 genes		1infetile	Male infertility	CDY1
10469697	Infertility	Deletion of DAZ gene		10 ( 4 idiopathic azoospermia, 6 oligozoospermia)	Male infertility	RBM SRY
10402373	Infertility	Deletions in the Y chromosome		180 ( 55 azoospermic and Sertoli cell-only, 85 severe oligozoospermia and hypospermatogenesis, 20 moderate oligozoospermia and hypospermatogenesis, 20 mild oligospermia and hypospermatogenesis ), 50 azoospermic and severely oligozoospermic men with known	Male infertility	RBM DFFRY
10335473	Infertility	Deletions were observed in sY84, sY143, sY254, sY255	Chinese	68 infertile	Male infertility
9872361	Infertility	Yq microdeletions		67 ( 60 azoospermia, 7 oligozoospermia)	Male infertility	AZFa b
9733433	Infertility	Y chromosome microdeletions	More th an 50% control s and p atients were C hinese	202 infertile (43 azoospermic, 86 severely oligozoospermic, 39 oligozoospermic, 34 normal sperm concentrations), 101 healthy individuals	Male infertility	RBM AZFc
9130751	Infertility	AZF/DAZ deletions			Male infertility
8661148	Infertility	Deletion in AZF region			Male infertility
23512232	Spermatogenic failure, infertility	DAZ copy cluster deletion	South C hinese	186 infertile, 190 normozoospermic fertile men	Male infertility	DAZ2 DAZ4 DAZ3
23388839	Spermatogenic failure	AZFc-partial deletions	Chilean	218 secretory azoospermia or oligozoospermia, 182 controls (116 fertile and/or normozoospermic, and 66 azoospermic with normal spermatogenesis )	Male infertility
21548847	Non obstructive azoospermia, Male infertility			203 azoospermic men	Male infertility	AKAP4 PRM1 PRM2
20873591	Azoospermia, Oligospermia	AZFc -partial deletion	Chinese	160 azoospermic or oligozoospermic , 76 normal fertility	Male infertility	ZFX/ZFY and SRY
20626165	Testicular disorder of sex development			2 patients	Male infertility	SRY YRRM1 DYS240
20576090	Infertility	AZFc deletions		13 patients(1-idiopathic SCOS, 6- hypospermatogenesis, 3- SCOS and AZFc-b2/b4 deletion, 3- HS and AZFc-b2/b4 deletion), 3 controls (obstructive azoospermia and normal spermatogenesis)	Male infertility
20542509	Infertility	Deletion of sY142, sY143, sY1197, sY1192, and G34984(PRY)		1 (oligoasthenospermia with partial spermatogenic failure)	Male infertility	RBMY1 PRY
20533269	Infertility	Partial deletions AZFc		236 controls, 453 patients (158 azoospermia, 160 severe oligozoospermia, 135 oligozoospermia)	Male infertility
20039973	Infertility	gr/gr deletions	Han Chi nese	1426 (azoospermia/oligozoospermia), 672 normozoospermia	Male infertility	CDY1 BPY2
19953495	Infertility	AZFc deletions		272 azoospermia, 240 oligozoospermia	Male infertility	AZFb c
19072570	Infertility	AZF deletions		205 infertile/ subfertile men, 152 fertile controls	Male infertility	MYPT2Y/MYPT2 CDY2/CDY1 SRY MYPT2Y
19030103	Infertility			15 Turner syndrome	Male infertility	SRY CDY1 DBY UTY AZFa b
18782837	Infertility	gr/gr deletion	Austral ia (50) , Denma rk (25) , Franc e (13), German y (35), Hungar y (4), Italy ( 24), Sp ain (18 )	152 infertile, 17 fertile	Male infertility	CDY1
18579508	Infertility	AZFc deletions	Han Chi nese	269non-AZFc-deleted men with unknown spermatogenic status as controls, 634 men with normozoospermia (57 partial AZFc deletion (19 de novo deletion, 29 inherited, 9 samples from relatives absent)), 1286 azoospermic/oligozoospermic (157 partial AZFc deleted	Male infertility	CDY1
18440997	Infertility	AZFc deletions	Copenha gen are a	265 (178 ICSI, 141 male factor infertility, 4 female factor infertility, 6 combination of infertility, 19 unexplained infertility)	Male infertility
18385127	Infertility				Male infertility
18326516	Infertility	gr/gr deletion	Caucasi an orig in livi ng in B elgium or the Netherl ands	187 infertile (44 non-obstructive azoospermia, 51 cryptozoospermia, 92 oligozoospermia), 394 control( 33 men for normal spermatogenesis, 278 normozoospermia, 83 proven fertility)	Male infertility	CDY1
17881721	Infertility		Chilean	65 patients(42 non-obstructive azoospermia (13 maturation arrest, 19 complete SCOS, 7focal SCOS, 3 hypospermatogenesis ), 23 obstructive azoospermia), 10 normozoospermic	Male infertility	DDX3Y RBMY1 TSPY
17609244	Infertility	gr/gr deletion	Italian	146 (cryptorchidism), 140 controls (without cryptorchidism)	Male infertility	CDY1
17590851	Infertility	Microdeletions in AZF a, b	Men fro m west azarbai jan	100 controls, 99 azoospermia or severe oligozoospermia	Male infertility	AZF b c
17453684	Infertility	AZFb, c deletion		6 normospermic, 17 azoospermic	Male infertility	RBMY1
16970164	Infertility	Microdeletions of the full AZFc region	Chinese	1fertile, 2 decreasing sperm density with age	Male infertility
16963411	Infertility	DAZ gene copy deletions	Chinese	128 infertile, 287 normospermic	Male infertility
16796918	Infertility	AZF region deletion	Chinese	143 infertile, 40 fertile	Male infertility	AZF a b
16538008	Infertility	Deletion in Y chromosome		50 fertile, 48 infertile	Male infertility	SRY AMELY DBY RBMY
16491269	Infertility	gr/gr–DAZ1/DAZ2 deletion	Chinese	346 normozoospermic	Male infertility	DAZ2
16313071	Infertility	Microdeletions in AZF region		270 infertile	Male infertility	AZFa b
16123079	Infertility	gr/gr subdeletion	Austral ian	788 infertile, 234 controls	Male infertility
16085382	Infertility	gr/gr deletion			Male infertility
15804108	Infertility	Yq microdeletions	Chinese (Shaan xi prov ince in China)	64 idiopathic infertility, 20 normospermic	Male infertility
15513974	Infertility	gr/gr deletion	Spanish	232 controls, 406 patients	Male infertility
15474244	Infertility	Y chromosome microdeletions		208 (119 non-obstructive azoospermia, 89 severe oligoasthenoteratozoospermia )	Male infertility
15095338	Infertility	Y chromosome microdeletions	Japanes e	118 infertile	Male infertility
15050875	Infertility	AZF microdeletions	Turkey	61 infertile	Male infertility	AZFa AZFb
15016778	Infertility	Y chromosome microdeletions	Germany , Cauc asian m en	1 infertile	Male infertility
14978955	Infertility	Deletion of DAZ gene		2 infertile	Male infertility
14517364	Infertility	Y chromosome microdeletions	UttarPr adesh a nd Biha r	180 infertile	Male infertility
12792709	Infertility	Y chromosome deletions	Brazili an	60 azoospermic, oligozoospermic, 12 FERTILE	Male infertility
12491684	Infertility	Balanced translocation t(1;12) (q24;q24)	China	2 infertile	Male infertility	YRRM1 DYS240
12230821	Infertility	Y chromosome microdeletions		100 infertile	Male infertility	AZF a b c
12150339	Infertility	Yq microdeletion	Italy	1 infertile	Male infertility
12085101	Infertility	Deletions in the DAZ (deleted in azoospermia) loci sgamma254 and sgamma255		29 idiopathic azoospermia	Male infertility
12039700	Infertility	DAZ gene deletions		50 fertile, 58 patients (15 mild oligozoospermia, 18 moderate oligozoospermia, 25 severe oligozoospermia)	Male infertility
11901266	Infertility	DAZ gene single nucleotide polymorphisms		109 Benin (West Africa), 76 Rwanda (East Africa), 71 Kungurtug (Asian population), 25 Formosa aborigines (Central Asia & Taiwan), 375 Caucasian (80 Basques (Spain), 151 Nile Delta (Egyptian), 144 Oman (Egyptian))	Male infertility
11870237	Infertility	DAZ1/DAZ2 deletions		77 infertile, 107 fertile	Male infertility	DAZ2
11532470	Infertility	Y chromosome microdeletions		143 infertile (33 Sertoli cell only syndrome, 10 maturation arrest, 11 hypospermatogenesis)	Male infertility	AZFb
11525089	Infertility	DAZ- gene deletion			Male infertility
11310577	Infertility	Y chromosome deletions	Japanes e	57 infertile ( 44 azoospermia, 113 oligozoospermia), 30 fertile	Male infertility	RBM
11050840	Infertility	Y chromosome microdeletions	Spanish	1 infertility	Male infertility	deleted in azoospermia (DAZ) basic protein Y-2 (BPY2)
10975411	Infertility	AZF deletions		128 infertility (57 non-obstructive azoospermia, 71 with low sperm counts)	Male infertility	RBM
10948474	Infertility	Y chromosome pericentric inversion in the DAZ gene area	Italy	1 oligozoospermia	Male infertility
11113757	Infertility	Y chromosome microdeletions	Taiwane se		Male infertility	RBM AZFb
10566180	Infertility	Y chromosome microdeletions		50 fertile controls, 40 unilateral ex-cryptorchid with azoospermia or severe oligozoospermia sustained by severe bilateral testiculopathy, 20 unilateral ex-cryptorchid men with moderate oligozoospermia , 110 patients affected by severe idiopathic primary	Male infertility	RBM genes AZFa b and c regions
10548602	Infertility	Y chromosome microdeletions		4 infertile, 12 normal	Male infertility	RBM
10523011	Infertility	Y chromosome deletions		240 (aoospermic, oligozoospermic), 100 normozoospermic	Male infertility	AZFa b c RBM
10439009	Infertility	Y chromosome deletions		40 infertile, 18 fertile	Male infertility	RBM
10402374	Infertility	Y chromosome microdeletions		134 infertile	Male infertility	DBY CDY XKRY eIF-1A BPY2
10367234	Infertility	Y chromosome microdeletions		53 infertile	Male infertility
10360905	Infertility	DAZ gene microdeletion		2 patients	Male infertility
9842473	Infertility	Y chromosome microdeletions		48 infertile	Male infertility	AZF region
9733030	Infertility	DAZ gene deletions		16 patients	Male infertility
9620831	Infertility	Y chromosome deletion		1 cryptozoospermia	Male infertility	AZFc region
9616989	Infertility	AZF deletions		16 azoospermic	Male infertility	AZFb c
9557827	Infertility	Y chromosome deletions		59 azoospermic, 35 normozoospermic	Male infertility	RBM1
9294854	Infertility	Y chromosome microdeletions		204 (13 azoospermic, 158 oligozoospermic, 33 asthenozoospermia), 50 normozoospermic	Male infertility
9100576	Infertility	Y chromosome deletions		260 infertile ( 25 idiopathic azoospermia, 61 idiopathic oligozoospermia)	Male infertility	Yq regions
9237238	Infertility	Y-linked microdeletions		200 fertile, 32 infertile couples and sons born after ICSI	Male infertility	Y chromosome microdeletions
8636331	Infertility	Y chromosome microdeletions		23 fertile, 50 azoospermia, 10 oligozoospermia, 15 X-linked disorder, ichthyosis	Male infertility	Y chromosome microdeletions
7670487	Infertility	Y chrmosome deletions		90 fertile , 89 azoospermia,	Male infertility
23696539	Infertility	DAZ duplications , haplogroups Y-hgs K* and O3e*	Han Chi nese	2456 controls, 2444 azoospermia or oligozoospermia	Male infertility
9880685	Hypogonadotropic hypogonadism, cryptorchidism				Male infertility, Female infertility
12150339	Azoospermia	Yq microdeletion		3(1 proband, 2 sisters of the proband)	Male infertility, Female infertility
26931020	Spermatogenic impairment	gr/gr and b2/b3 deletions in the AZFc region		216 (121 infertile men with different de- grees of spermatogenic impairment, 95 healthy donors)	Male infertility
26149076	Azoospermia, Oligozoospermia	AZFc subdeletions (gr/gr, b1/b3 and b2/b3)		827 (312 controls, 172 azoospermic and 343 oligozoospermic subjects)	Male infertility	DAZ CDY1
25594150	Nonobstructive azoospermia(NOA), oligozoospermia			354 (120 patients with NOA, 109 with oligozoospermia, and 125 normal male controls)	Male infertility	DAZ CDY
23512232	Spermatogenic impairment, Male infertility	11 gr/gr deletions	South c hinese	376 (186 infertile men with different spermatogenic impairments, 190 normozoospermic fertile men)	Male infertility	DAZ1/DAZ2 DAZ3/DAZ4
22927988	Impaired spermatogenesis	gr/gr deletion, b2/b3 deleteion, b1/b3 deletion, b3/b4 deletion	Korean	594 (377 patients with azoo-/oligozoospermia, 217 controls)	Male infertility
21735657	Male infertility	gr/gr deletion		9626 (5246 cases of idiopathic infertility, 4380 controls)	Male infertility
20039973	Spermatogenetic defects	gr/gr deletion	Han Chi nese	2098 (1426 azoo/oligozoospermic, 672 normozoospermic men)	Male infertility
18782837	Azoospermia	gr/gr deletions, b2/b4 duplication		169 men diagnosed with gr/gr deletions	Male infertility
17609244	Cryptorchidism	gr/gr deletion		286 (146 cryptorchid, 140 infertile patients)	Male infertility
17416365	Spermatogenic failure, Azoospermia, Oligozoospermia	AZFc subdeletions	Chilean	172 (95 azo/oligozoospermic men without AZFc Y chromosome microdeletions: 71 whose testicular histology showed severe spermatogenic impairment and 24 who exhibited reduced testicular volume, 77 men (50 fertile and/or normozoospermic, and 27 with azoosperm	Male infertility
17412880	Male infertility, spermatogenetic failure	gr/gr deletion, b2/b3 deletion	Chinese	576 (296 infertile men, 280 healthy men)	Male infertility
17285591	Impaired spermatogenesis	b2/b3 deletion	Han Chi nese, T aiwanes e	829 (142 oligospermic men, 107 fertile controls, 580 men screened for AZFc deletions )	Male infertility
16674553	Spermatogenic impairment	DAZ1/DAZ2 deletion	Han Chi nese	886 East Asians from 8 ethnic groups	Male infertility
16123079	Male infertility	AZFc deletions		833 (234 control men, 599 consecutive men presenting for assisted reproductive technologies)	Male infertility
15744033	Spermatogenic impairment, Male infertility	AZFc deletions		600 (337 infertile men with different spermatogenic impairment, 263 normozoospermic fertile men)	Male infertility
15520406	Spermatogenic failure, Male infertility	AZFc deletions (gr/gr and b1/b3)		699 (300 infertile men, 399 control men)	Male infertility
15513974	Spermatogenic failure, Azoospermia, Oligospermia, Male infertility	gr/gr deletion		515 (217 oligospermic, 66 azoospermic, 232 controls)	Male infertility
26638807	Azoospermia, Oligozoospermia	SRY, DAZ and BPY2 genes showed copy number variation	Indian	172 (34 azoospermic (AZ), 43 oligospermic (OS), and 40 infertile males with normal spermiogram (INS) together with 55 normal fertile males)	Male infertility	SRY DAZ DYZ1 and BPY2
24728569	Azoospermia			114 (83 semen samples, 31 non-obstructive azoospermia)	Male infertility	TSPY1 DAZ SPTRX3 and SPTRX1
9321470	Azoospermia, severely oligospermia	DAZ transcripts with different copy number			Male infertility
9695355	Azoospermia, severe oligozoospermia				Male infertility
24935076	Azoospermia, spermatogenic impairment	b2/b3 partial deletion (including both deletion-only and deletion-duplication), AZFc deletions	Han Chi nese	1435 (654 idiopathic infertile men, 781 healthy controls)	Male infertility	DAZ BPY2
24009201	Male infertility	sY1206 deletion	Chines e (Yi e thnic p opulati on)	377 (224 infertile patients, 153 fertile subjects)	Male infertility	CDY1 DAZ
11263480	Severe hypospermatogenesis, Sertoli cell-only syndrome			17 infertile patients	Male infertility	DAZ  CDY1
11163833	Azoospermia			66 men with azoospermia	Male infertility	DAZ CDY1 RBM
17296183	Male infertility		Han Chi nese fr om East China	839 (627 infertile men, 212 fertile men)	Male infertility	USP9Y DBY SMCY  RBM1 and DAZ
9391878	Oligozoospermia			50 patients with oligozoospermia	Male infertility
8864744	Azoospermia, severe oligozoospermia			153 men with azoospermia or severe oligozoospermia whose Y chromosomes were cytogenetically normal	Male infertility	YRRM1 DAZ SMCY
25916124	Male infertility	DAZ T > C polymorphism	Iran		Male infertility	DAZ
19228232	Azoospermia				Male infertility	DAZ
9783841	Non-obstructive azoospermia			38 (20 Sertoli cell-only syndrome, 6 maturation arrest, 6 hypospermatogenesis, 6 obstructive azoospermic patients with normal spermatogenesis)	Male infertility	DAZ DAZL1
10685522	Nonobstructive azoospermia, oligoasthenospermia	Microdeletion of the DAZ locus		25 Infertile patients	Male infertility	DAZ
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray