Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility

Biology of Reproduction

Volumn 71, Issue 1, 2004, Pages 297-306

  Shinkay, Toshikatstu ^a,d   Sato, Yoko ^b,d   Chen, Gang ^a   Naroda, Takushi ^a,c   Kinoshita, Keigo ^a   Unemi, Yukiko ^a,d   Tsuji, Keiko ^a,d   Toida, Kazunori ^c   Iwamoto, Teruaki ^b,d   Nakahori, Yutaka ^a,c,d  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF TOKUSHIMA   (Japan)

^d NONE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; HEAT SHOCK PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; AZOOSPERMIA; CHROMOSOME 1; CHROMOSOME DELETION; CHROMOSOME MAP; GENE; GENE LOCATION; HSFY GENE; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; MALE; MALE INFERTILITY; OLIGOSPERMIA; OPEN READING FRAME; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SERTOLI CELL; SPERMATOGENESIS; X CHROMOSOME; Y CHROMOSOME;

ADULT; AMINO ACID SEQUENCE; BLOTTING, WESTERN; CELL LINE; CHROMOSOMES, HUMAN, Y; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; GENE DELETION; HEAT-SHOCK PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; INFERTILITY, MALE; INTRACELLULAR FLUID; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; OLIGOSPERMIA; PHYLOGENY; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; TESTIS; TISSUE DISTRIBUTION; TRANSCRIPTION FACTORS;

MURINAE;

EID: 3142664681     PISSN: 00063363     EISSN: None     Source Type: Journal    
DOI: 10.1095/biolreprod.103.023580     Document Type: Article

References (47)

1. Nagafuchi S, Namiki M, Nakahori Y, Kondoh N, Okuyama A, Nakagome Y. A minute deletion of the Y chromosome in men with azoospermia. J Urol 1993; 150:1155-1157.
2. Kobayashi K, Mizuno K, Hida A, Komaki R, Tomita K, Matsushita I, Namiki M, Iwamoto T, Tamura S, Minowada S, Nakahori Y, Nakagome Y. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet 1994; 11:1965-1967.
3. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Kohn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Grone HJ, Jung A, Engel W, Haidl G. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996; 5:933-943.
4. Sun C, Skaletsky H, Rozen S, Gromoll J, Nieschlag E, Oates R, Page DC. Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet 2000; 9:2291-2296.
5. Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, Oates R, Page DC. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet 1999; 23:429-432.
6. Ma K, Inglis JD, Sharkey A, Bickmore WA, Hill RE, Prosser EJ, Speed RM, Thomson EJ, Jobling M, Taylor K, Wolfe J, Cooke HJ, Hargreave TB, Chandley AC. A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 1993; 75:1287-1295.
7. Lahn BT, Page DC. Functional coherence of the human Y chromosome. Science 1997; 278:675-680.
8. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, de la Chapelle A, Silber S, Page DC. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet 1995; 10:383-393.
9. Giacalone J, Delobette S, Gibaja V, Ni L, Skiadas Y, Qi R, Edington J, Lai Z, Gebauer D, Zhao H, Anantharaman T, Mishra B, Brown LG, Saxena R, Page DC, Schwartz DC. Optical mapping of BAC clones from the human Y chromosome DAZ locus. Genome Res 2000; 10: 1421-1429.
10. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R, Mc-Pherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S, Page DC. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003; 423:825-837.
11. Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, Kuroda-Kawaguchi T, de Vries JW, Oates RD, Silber S, van der Veen F, Page DC, Rozen S. Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 2003; 35:247-251.
12. Kuroki Y, Iwamoto T, Lee J, Yoshiike M, Nozawa S, Nishida T, Ewis AA, Nakamura H, Toda T, Tokunaga K, Kotliarova SE, Kondoh N, Koh E, Namiki M, Shinka T, Nakahori Y. Spermatogenic ability is different among males in different Y chromosome lineage. J Hum Genet 1999; 44:289-292.
13. Nakai A, Suzuki M, Tanabe M. Arrest of spermatogenesis in mice expressing an active heat shock transcription factor 1. EMBO J 2000; 19:1545-1554.
14. Kallio M, Chang Y, Manuel M, Alastalo TP, Rallu M, Gitton Y, Pirkkala L, Loones MT, Paslaru L, Larney S, Hiard S, Morange M, Sistonen L, Mezger V. Brain abnormalities, defective meiotic chromosome synapsis and female subfertility in HSF2 null mice. EMBO J 2002; 21:2591-2601.
15. Sarge KD, Park-Sarge OK, Kirby JD, Mayo KE, Morimoto RI. Expression of heat shock factor 2 in mouse testis: potential role as a regulator of heat-shock protein gene expression during spermatogenesis. Biol Reprod 1994; 50:1334-1343.
16. Alastalo TP, Lonnstrom M, Leppa S, Kaamiranta K, Pelto-Huikko M, Sistonen L, Parvinen M. Stage-specific expression and cellular localization of the heat shock factor 2 isoforms in the rat seminiferous epithelium. Exp Cell Res 1998; 240:16-27.
17. Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, Wagner L, Shenmen CM, Schuler GD, Altschul SF, Zeeberg B, Buetow KH, Schaefer CE Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A 2002; 99:16899-16903.
18. Rabindran SK, Giorgi G, Clos J, Wu C. Molecular cloning and expression of a human heat shock factor, HSF1. Proc Natl Acad Sci U S A 1991; 88:6906-6910.
19. Schuetz TJ, Gallo GJ, Sheldon L, Tempst P, Kingston RE. Isolation of a cDNA for HSF2: evidence for two heat shock factor genes in humans. Proc Natl Acad Sci U S A 1991; 88:6911-6915.
20. Nakai A, Tanabe M, Kawazoe Y, Inazawa J, Morimoto RI, Nagata K. HSF4, a new member of the human heat shock factor family which lacks properties of a transcriptional activator. Mol Cell Biol 1997; 17: 469-481.
21. Nakai A, Morimoto RI. Characterization of a novel chicken heat shock transcription factor, heat shock factor 3, suggests a new regulatory pathway. Mol Cell Biol 1993; 13:1983-1997.
22. Pirkkala L, Nykanen P, Sistonen L. Roles of the heat shock transcription factors in regulation of the heat shock response and beyond. FASEB J 2001; 15:1118-1131.
23. Benjamin IJ, McMillan DR. Stress (heat shock) proteins: molecular chaperones in cardiovascular biology and disease. Circ Res 1998; 83: 117-1132.
24. Polla BS, Cossarizza A. Stress proteins in inflammation. EXS 1996; 77:375-391.
25. Sarge KD, Cullen KE. Regulation of hsp expression during rodent spermatogenesis. Cell Mol Life Sci 1997; 53:191-197.
26. Dix DJ, Allen JW, Collins BW, Poorman-Allen P, Mori C, Blizard DR, Brown PR, Goulding EH, Strong BD, Eddy EM. HSP70-2 is required for desynapsis of synaptonemal complexes during meiotic prophase in juvenile and adult mouse spermatocytes. Development 1997; 124:4595-4603.
27. Dix DJ, Allen JW, Collins BW, Mori C, Nakamura N, Poorman-Allen P, Goulding EH, Eddy EM. Targeted gene disruption of Hsp70-2 results in failed meiosis, germ cell apoptosis, and male infertility. Proc Natl Acad Sci U S A 1996; 93:3264-3268.
28. Feng HL, Sandlow JI, Sparks AE. Decreased expression of the heat shock protein Hsp70-2 is associated with the pathogenesis of male infertility. Fertil Steril 2001; 76:1136-1139.
29. McMillan DR, Christians E, Forster M, Xiao X, Connell P, Plumier JC, Zuo X, Richardson J, Morgan S, Benjamin IJ. Heat shock transcription factor 2 is not essential for embryonic development, fertility, or adult cognitive and psychomotor function in mice. Mol Cell Biol 2002; 22:8005-8014.
30. Tessari A, Salata E, Ferlin A, Bartoloni L, Slongo ML, Foresta C. Characterization of HSFY, a novel AZFb gene on the Y chromosome with a possible role in human spermatogenesis. Mol Hum Reprod Advance Access published on February 16, 2004.
31. Maniatis T, Fritsch E, Sambrook J. Molecular Cloning: A Laboratory Manual, 2nd ed. New York: Cold Spring Harbor Laboratory Press; 1989:653-654.
32. Nakahori Y, Kuroki Y, Komaki R, Kondoh N, Namiki M, Iwamoto T, Toda T, Kobayashi K. The Y chromosome region essential for spermatogenesis. Horm Res 1996; 46(suppl 1):20-23.
33. Silber SJ, Alagappan R, Brown LG, Page DC. Y chromosome deletions in azoospermic and severely oligozoospermic men undergoing intracytoplasmic sperm injection after testicular sperm extraction. Hum Reprod 1998; 13:3332-3337.
34. Shinka T, Naroda T, Tamura T, Sasahara K, Nakahori Y. A rapid and simple method for sex identification by heteroduplex analysis, using denaturing high-performance liquid chromatography (DHPLC). J Hum Genet 2001; 46:263-266.
35. Toida K, Kosaka K, Aika Y, Kosaka T. Chemically defined neuron groups and their subpopulations in the glomerular layer of the rat main olfactory bulb-IV. Intraglomemlar synapses of tyrosine hydroxylase-immunoreactive neurons. Neuroscience 2000; 101:11-17.
36. Shi S, Chaiwun B, Young L, Imam A, Cote R, Taylor C. Antigen retrieval using pH 3.5 glycine HCI buffer or urea solution for immunohistochemical localization of Ki-67. Biotech Histochem 1994; 69:213-215.
37. Ferlin A, Moro E, Rossi A, Foresta C. The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in fertile men. J Med Genet 2003; 40:13-24.
38. Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, Page DC, Rozen S. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 2002; 71:906-922.
39. Rabindran SK, Haroun RI, Clos J, Wisniewski J, Wu C. Regulation of heat shock factor trimer formation: role of a conserved leucine zipper. Science 1993; 259:230-234.
40. Sheldon LA, Kingston RE. Hydrophobic coiled-coil domains regulate the subcellular localization of human heat shock factor 2. Genes Dev 1993; 7:1549-1558.
41. Ahn SG, Liu PC, Klyachko K, Morimoto RI, Thiele DJ. The loop domain of heat shock transcription factor 1 dictates DNA-binding specificity and responses to heat stress. Genes Dev 2001; 15:2134-2145.
42. Brown IR, Rush SJ. Cellular localization of the heat shock transcription factors HSF1 and HSF2 in the rat brain during postnatal development and following hyperthermia. Brain Res 1999; 821:333-340.
43. Eriksson M, Jokinen E, Sistonen L, Leppa S. Heat shock factor 2 is activated during mouse heart development. Int J Dev Biol 2000; 44: 471-477.
44. Hong Y, Lubert EJ, Rodgers DW, Sarge KD. Molecular basis of competition between HSF2 and catalytic subunit for binding to the PR65/A subunit of PP2A. Biochem Biophys Res Commun 2000; 272:84-89.
45. Hong Y, Sarge KD. Regulation of protein phosphatase 2A activity by heat shock transcription factor 2. J Biol Chem 1999; 274:12967-12970.
46. Tanabe M, Sasai N, Nagata K, Liu XD, Liu PC, Thiele DJ, Nakai A. The mammalian HSF4 gene generates both an activator and a repressor of heat shock genes by alternative splicing. J Biol Chem 1999; 274:27845-27856.
47. Goodson ML, Park-Sarge OK, Sarge KD. Tissue-dependent expression of heat shock factor 2 isoforms with distinct transcriptional activities. Mol Cell Biol 1995; 15:5288-5293.